Website SiteMap

Welcome to ClinGen
- Get Started
- About Us
  - About ClinGen
  - ClinGen & ClinVar Partnership
  - ClinGen, CPIC and PharmGKB Partnership
  - ClinGen Opportunities
  - Citing ClinGen & Terms of Use
  - Contact ClinGen
  - Events & Conferences
    - ClinGen at ACMG 2025
      Browse ClinGen events, presentations and posters featured at the ACMG 2025 conference.
    - GenomeConnect Webinar: Learn how to track a gene in ClinGen
      Learn more about candidate genes. In addition, ClinGen's Danielle Azzariti will review how to search and how to track genes in ClinGen.
    - ClinGen at ASHG 2024
      Browse ClinGen events, presentations and posters featured at the ASHG 2024 conference.
    - GenomeConnect Webinar: Learn How To Search ClinVar
      Learn about National Center for Biotechnology Information's ClinVar. ClinVar's Melissa Landrum will review how to search ClinVar and how to track variants in the database followed by a short Q&A session.
    - ClinGen at NSGC 2024
      Browse ClinGen events, presentations and posters featured at the NSGC 2024 conference.
    - ClinGen Awards 2024
      - Expert Panel Recognition
      - Publication Recognition
      - Trainee/ Early Career Publication Award
      - Significant Contributor Awards
      - Community Awards
      - ClinGen Awards 2024 Committee
    - 10th Biennial Meeting of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
      Join ClinGen's InSiGHT Hereditary Colorectal Cancer/Polyposis VCEP at the 10th Biennial Meeting of InSiGHT.
    - Clinical Genomics Careers Panel Webinar Series 2024
      The Clinical Genome Resource team is putting together a summer panel series for individuals interested in pursuing a career in genomics. Sessions will be moderated and will feature a panel of individuals discussing their pathway into the field including career awareness, required education, and challenges, and job satisfaction.
    - Curating the Clinical Genome 2024
      Learn more about the Curating the Clinical Genome 2024 meeting in Baltimore, MD.
      - Registration/Housing
      - Program
      - Abstracts
      - Sponsors
      - Scientific Program Committee
      - History
      - Contact
    - GenomeConnect Webinar: How to Read a Genetic Testing Report
      Review types of genetic changes (variants) and other common genetics terms as we walk through how to review a genetic test report.
    - ClinGen at ACMG 2024
      Browse ClinGen events, presentations and posters featured at the ACMG 2024 conference.
    - GenomeConnect Webinar: Importance of Individuals Sharing Health and Genomic Data
      Learn about how sharing genetic and health data can increase our understanding of genes and variants.
    - ClinGen at AMP 2023
      Browse ClinGen events, presentations and posters featured at the AMP 2023 conference.
    - ClinGen at ASHG 2023
      Browse ClinGen events, presentations and posters featured at the ASHG 2023 conference.
    - ClinGen at NSGC 2023
      Browse ClinGen events, presentations and posters featured at the NSGC 2023 conference.
    - ClinGen Summer Workshop Series 2023
      ClinGen will be hosting a mini-series of three one-hour workshops or discussion panels during the June 16, July 21, and September 15 ClinGen Consortium calls.
    - Curating the Clinical Genome 2023
      The 2023 Curating the Clinical Genome conference will be taking place virtually and in person at the Wellcome Genome Campus, July 10-12 2023.
    - H3Africa Virtual Workshop 2023- A Global Platform for Curation
      In partnership with the H3Africa Rare Disease Working Group, ClinGen hosted a virtual workshop March 29, 2023 A Global Platform for Curation: Classifying Variants Using ClinGen Tools
    - ClinGen at ACMG 2023
      Browse ClinGen events, presentations and posters featured at the ACMG 2023 conference.
    - ClinGen at ICHG 2023
      Join ClinGen at ICHG 2023.
    - ClinGen at PSB 2023
      Accessing clinical-grade genomic classification data through the ClinGen Data Platform
      - Workshop Info
      - Speakers
    - ClinGen at ASHG 2022
      Browse ClinGen events, presentations and posters featured at the ASHG 2022 conference.
    - Curating the Clinical Genome 2022
      The Curating the Clinical Genome (CCG) 2022 conference will be held virtually June 6-8, 2022.
      - Agenda
      - Workshops
      - Call for Abstracts
      - Planning Committee
      - History
      - Trainee Award Winners
    - Hands-On Rare Disease Genomic Analysis Workshop
    - ClinGen at ACMG 2022
      Browse ClinGen presentations and posters featured at the ACMG Annual Clinical Genetics Meeting 2022.
    - ClinGen at ASHG 2021
      Browse ClinGen presentations and posters featured at the ASHG 2021 virtual conference.
    - ClinGen Virtual Retreat 2021
      On June 24-25, 2021, ClinGen hosted a virtual two-day retreat.
      - Agenda
      - Publication Awards
      - Expert Panel Awards
      - Contributor Awards
      - Community Awards
    - Curating the Clinical Genome (Virtual Conference)
    - ClinGen at the 2021 ACMG Annual Clinical Genetics Meeting
      Browse ClinGen presentations and posters featured at the ACMG 2021 virtual conference.
    - H3Africa Rare Disease Working Group and ClinGen Resource Workshop
      - Educational Resources
      - Get Involved
    - CNV Guidelines Implementation Webinar
    - ClinGen at ASHG 2020
      Browse ClinGen presentations and posters featured at the ASHG 2020 virtual conference.
    - Curating the Clinical Genome 2020
      Curating the Clinical Genome will be held May 20-22, 2020 at the Wellcome Genome Campus, UK.
    - CNV Technical Standards Web Series
      An in-depth, multi-part review of the newly published ACMG/ClinGen technical standards for constitutional CNVs
    - ClinGen at ASHG 2019
    - Curating the Clinical Genome 2019
      Learn more about the Curating the Clinical Genome 2019 meeting in Washington, DC.
      - Scientific Program Committee
      - Sponsors
      - History
      - Contact
    - ClinGen at ACMG 2019
  - FDA Recognition
    - FDA Recognizes ClinGen Assertions in ClinVar - Frequently Asked Questions
  - Leadership
  - Member Directory
  - Organization Directory
  - Partnerships
    - Association for Clinical Genomic Science
      A professional organization representing all scientists, technologists and bioinformaticians in all labs carrying out genetic and genomic work in the United Kingdom. ACGS and ClinGen are partnering to support Expert Panels in the cardiovascular clinical domain.
    - American Society of Hematology
      ASH is a professional society serving both clinicians and scientists around the world who are working to conquer blood diseases. ASH and ClinGen are partnering to support Expert Panels in the hematology and hereditary cancer clinical domain.
    - Concert Genetics
      Concert Genetics provides the digital infrastructure for management of genetic testing and precision medicine. ClinGen and Concert are partnering to investigate the use of race, ethnicity, and ancestry terms in clinical testing requisition forms and insurance reimbursement policies.
    - Enzyvant
      Enzyvant is an accelerator for transformative regenerative medicines with a focus on tissue-based therapies for rare conditions. We see a world where the promise of our breakthrough biotechnologies is fully realized. To achieve this vision, we are the stewards of science and catalysts for industry change needed to speed life-changing novel therapies to patients and families in desperate need.
    - Gene Curation Coalition
      The Gene Curation Coalition brings together groups engaged in the evaluation of gene-disease validity with a willingness to share data, to develop consistent terminology for gene curation activities and to facilitate the consistent assessment of genes that have been reported in association with disease. ClinGen is a member of the GenCC and supports its website and database. ClinGen submits its curated data to the GenCC database. ClinGen will also work with GenCC members to resolve classification discrepancies that involve ClinGen GCEPs.
    - Genetic Testing Reference Materials Coordination Program
      The Centers for Disease Control and Prevention's Genetic Testing Reference Material Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of expert curated, clinically important variants. ClinGen/GeT-RM will continute this partnership by hosting the expert curated variant list on the ClinGen website. A nomination form is provided so that the community can nominate variants to be added to the resource.
    - Hypothes.is
      ClinGen biocurators are partnering with Hypothes.is to determine if Hypothes.is assisted annotation can expedite gene curation through use of a newly developed experimental plugin that has the capability of integrating and coordinating specified annotation fields with those required for database entry fields.
    - Johnson&Johnson
      About Our Commitment to Eye Health-- At Johnson & Johnson, we have a deep legacy in developing transformational new products that improve the health of patients’ eyes. As a global leader in eye health, we have a bold ambition: Vision Made Possible – and are paving the way for a new future of eye health to support the full spectrum of pediatric, developed, and mature eyes. Through cutting-edge innovation, scientific expertise, and advanced technologies, we are revolutionizing the way people see and experience the world. At every step of the eye health journey – from investigational gene therapies for retinal diseases to contact lenses and refractive and cataract surgical solutions – we stand as a trusted partner with the goal of making vision possible for customers and patients. About Johnson & Johnson-- At Johnson & Johnson, we believe health is everything. Our strength in healthcare innovation empowers us to build a world where complex diseases are prevented, treated, and cured, where treatments are smarter and less invasive, and solutions are personal. Through our expertise in Innovative Medicine and MedTech, we are uniquely positioned to innovate across the full spectrum of healthcare solutions today to deliver the breakthroughs of tomorrow, and profoundly impact health for humanity. Learn more at www.jnj.com or at www.janssen.com/johnson-johnson-innovative-medicine. Follow us at @JanssenUS and @JNJInnovMed. Janssen Research & Development, LLC is a Johnson & Johnson company.
    - Pharming
      Pharming is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating, and life-threatening diseases.
    - Foundation Fighting Blindness
      The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.
    - PTC Therapeutics
      PTC is a global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC and ClinGen are partnering to improve the diagnosis of Aromatic L-Amino acid Decarboxylase (AADC) deficiency by establishing a Variant Curation Expert Panel to facilitate the interpretation and classification of DDC variants.
    - Jain Foundation
      The Jain Foundation’s mission is to identify treatments for muscular dystrophies caused by mutations in the dysferlin (DYSF) gene. These dystrophies are collectively termed dysferlinopathy, but clinically are also referred to as LGMD2B, LGMDR2, or Miyoshi Myopathy 1 (MM1). The Foundation’s focused strategy includes funding and actively monitoring the progress of scientific research in key biological pathways that accelerate our progress towards the identification of therapeutic targets, providing financial and logistical support to promising drug candidates to accelerate them to clinical trials, funding clinical trials and studies, encouraging collaboration among scientists, and educating dysferlinopathy patients about their disease and helping them with their diagnosis. The Jain Foundation and ClinGen are partnering to support the expert curation of DYSF variants.
  - Policies
  - Website SiteMap
- Curation Activities
  - About ClinGen's Curation Activities
  - Gene-Disease Validity
    Can variation in this gene cause disease?
  - Variant Pathogenicity
    Which changes in the gene cause disease?
    - Variant Pathogenicity Training Materials
    - VCEP Procedures
    - Documents
      Documents and announcements related to Variant Pathogenicity Curation.
    - Interface
    - Browse Curations
  - Clinical Actionability
    Are there actions that could be taken to improve outcomes for patients with this genetic risk?
    - Clinical Actionability Training Materials
      The following documents and presentations are available to help people learn and understand the Clinical Actionability curation process. For questions about existing materials or requests for new materials, contact us at [email protected].
    - Documents
    - Interface
    - Browse Curations
  - Dosage Sensitivity
    Does loss or gain of a copy of this gene or genomic region result in disease?
  - Somatic Cancer Variant
    Somatic Cancer Clinical Domain Working Group curates the clinical significance of genomic anomalies associated with different cancer types within the following diseases specific task forces - pediatric cancers, pancreatic cancer, lung cancer and genitourinary cancers
    - Somatic Variant Training Materials
      Training videos and SOP documents available for those interested in Somatic Variant Curation.
    - Documents
    - Interface
  - Baseline Annotation
    Baseline annotation focuses on annotating evidence in the biomedical literature in a structured and standardized way, thus supporting our expert panels, working groups, and curation processes.
    - Baseline Annotation Training Materials
    - Community Curation Database
  - ClinGen Curation of ClinVar
  - Browse All ClinGen's Curated Genes
- Working Groups
  - Actionability
    Aims to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.
    - Adult Actionability Working Group
    - Pediatric Actionability Working Group
    - Polygenic Risk Score (PRS) Clinical Utility Working Group
    - Population Screening WG
  - Ancestry and Diversity
    The ClinGen Ancestry and Diversity Working Group (ADWG) works to ensure that genomic medicine is effective to everyone, regardless of race, ethnicity or ancestral background.
  - Biocurator
  - Cancer Variant Interpretation
  - ClinGen Community Curation (C3)
    The mission of the ClinGen Community Curation WG (C3) is to engage, identify, and communicate with potential ClinGen volunteers, and to facilitate the organization and placement of volunteers in curation efforts.
    - Baseline Annotation
  - ClinGen Curation of ClinVar
  - Clinical Domain Working Groups
    Curate clinical validity and clinical features of gene/phenotype pairs within distinct clinical domains
    - Cardiovascular CDWG
      The Cardiovascular Disease Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant for cardiovascular genetic and genomic medicine.
    - Kidney Disease CDWG
    - Hearing Loss CDWG
      The Hearing Loss Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant to syndromic and nonsyndromic hearing loss.
    - Hemostasis/Thrombosis CDWG
    - Hereditary Cancer CDWG
      The Hereditary Cancer Working Group aims to centralize and curate genetic knowledge in order to develop guidance for molecular diagnostic germline cancer testing.
    - Immunology CDWG
    - Inborn Errors of Metabolism CDWG
    - Neurodegenerative CDWG
    - Neurodevelopmental Disorders CDWG
      The Neurodevelopmental Disorders Clinical Domain Working Group aims to centralize and curate knowledge in order to defines the clinical relevance of genes and variants associated with neurodevelopmental disorders for use in precision medicine and research.
    - Neurological Disorders CDWG
    - Neuromuscular CDWG
      The Neuromuscular Disease Clinical Domain Working Group aimed to create a comprehensive, standardized knowledge base of genes and variants relevant for neuromuscular genetic and genomic medicine.
    - Ocular CDWG
    - Other
    - Pulmonary CDWG
    - RASopathy CDWG
      The ClinGen RASopathy CDWG established an expert panel (EP) to curate gene information and generate gene and disease-specific specifications to ACMG-AMP variant classification framework.
    - Rheumatologic Autoimmune Disease CDWG
    - Skeletal Disorders CDWG
    - Somatic Cancer CDWG
  - Copy Number Variant Interpretation Guidelines
    Develop a systematic framework for the clinical interpretation of cytogenomic copy number variants.
  - Curated Disease Entity
    The Curated Disease Entity (CDE) WG focuses on harmonizing curation products related to monogenic diseases within ClinGen’s curation activities (gene/variant/actionability/dosage), as well as between ClinGen and other entities (e.g., Mondo, OMIM).
    - Disease Naming Advisory Committee
      The Disease Naming Advisory Committee (DNAC) are focused on providing ClinGen expert panels and working groups with guidance (or points to consider) for defining the curated disease entity for making assertions of gene-disease validity, actionability and variant pathogenicity
    - Lumping and Splitting
      The Lumping and Splitting Working Group provides guidance for defining and refining disease entities for gene-disease classifications and partners with nosological and ontological authorities for the coordination of disease entity categorization and classification.
  - Data Access, Protection, and Confidentiality
    The Data Access, Protection and Confidentiality (DAPC) Working Group is a multi-disciplinary team of scholars and professionals with expertise in clinical curation, data sharing policies, ethical and legal frameworks, software development, and clinical genetics practice.
  - Data Platform
    Support ClinGen goals by developing an integrated system of software products using harmonized data standards across teams and workstreams.
  - Dosage Sensitivity Curation
    Evaluate the evidence supporting or refuting the dosage sensitivity of individual genes and genomic regions.
    - General Gene Dosage Sensitivity Subgroup
      This subgroup evaluates genes and/or non-recurrent genomic regions for evidence for haploinsufficiency and triplosensitivity.
    - Recurrent CNVs Dosage Sensitivity Subgroup
      This subgroup provides curation for recurrent and non-recurrent (variable breakpoint) genomic regions associated with constitutional conditions.
    - Hereditary Cancer Dosage Sensitivity Subgroup
      This subgroup curates constitutional dosage sensitivity of genes associated with an increased risk for cancer or tumors.
  - Education, Coordination and Training
    Aims to foster community engagement in all aspects of the ClinGen project through education, training, outreach, and resource development.
  - External Scientific Panel
    Scientific and technical advisors supporting ClinGen's key goals and overall mission.
  - Gene Curation
    Develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across the ClinGen project.
  - Low Penetrance/Risk Allele
  - Partnership
  - Pharmacogenomics Interpretation Committee
  - Pseudodeficiency Working Group
  - Sequence Variant Interpretation
    Guide improvement and enhancement of the ACMG/AMP Interpreting Sequence Variant Guidelines.
    - SVI Variant Curation Expert Panel Review Committee
  - Germline/Somatic Working Group
  - Steering Committee
    Provides oversight, guidance, and executive decisions regarding the activities and direction of the ClinGen Resource.
  - Variant Curation
- Expert Panels
  - ABCA4 Variant Curation Expert Panel
  - ACADVL Variant Curation Expert Panel
    This expert panel is tasked with curating variants in ACADVL, which encodes very long chain acyl CoA dehydrogenase (VLCAD), by using modified ACMG variant classification rules specific to fatty acid oxidation disorders. VLCAD is a mitochondrial enzyme that catalyzes the first step of β-oxidation of long chain fatty acids (Aoyama et al., 1995). Autosomal recessive pathological variants in ACADVL cause a condition known as VLCAD deficiency (VLCADD; OMIM #201475) (Strauss et al., 1995). As a result of this disordered fatty acid metabolism, these patients accumulate high plasma levels of long chain acylcarnitine derivatives (C14:1). VLCAD deficiency can have a wide clinical presentation that includes: a severe neonatal presentation with cardiomyopathy and a high mortality rate; childhood onset presenting with hypoketotic hypoglycemia with hepatic dysfunction; or as an adult-onset, exercised/ fasting induced myopathy presenting as rhabdomyolysis and myoglobinuria. ACADVL alleles tend to have genotypic/phenotypic correlations (Andresen et al., 1999). The incidence of VLCADD is now estimated at 1:30,000 to 1:100,000 births (McHugh et al 2011). Members of the current expert panel are experienced in different aspects of VLCAD deficiency and metabolic disease, including direct patient care, biochemical and molecular laboratory testing, and variant classification/curation.
  - Albinism Variant Curation Expert Panel
  - Alport Syndrome Variant Curation Expert Panel
  - Aminoacidopathy Gene Curation Expert Panel
  - Amyotrophic Lateral Sclerosis Spectrum Disorders Gene Curation Expert Panel
  - Amyotrophic Lateral Sclerosis Spectrum Disorders Variant Curation Expert Panel
  - Antibody Deficiencies Gene Curation Expert Panel
  - Antibody Deficiencies Variant Curation Expert Panel
  - Arrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
  - BCR::ABL1-like B-lymphoblastic Leukemia/Lymphoma Somatic Cancer Variant Curation Expert Panel
  - Brain Malformations Gene Curation Expert Panel
  - Brain Malformations Variant Curation Expert Panel
    Brain malformations comprise a group of genetic developmental brain disorders that present in childhood with intellectual disability, epilepsy, and other neurologic features, causing substantial morbidity, mortality, and health care costs. We now know that many cases of brain malformation are the result of rare, heritable causes; in other cases, they arise from de novo or somatic mutational events at the gamete or post-zygote stage. In all cases, establishing the correct genomic diagnosis is the cornerstone for proper clinical management.
  - Breast/Ovarian Cancer Gene Curation Expert Panel
  - Brugada Syndrome Gene Curation Expert Panel
    Brugada syndrome (BrS) is a genetic arrhythmia disorder that predisposes affected individuals to sudden cardiac death. There are currently greater than 20 genes reported to cause BrS and found on clinical genetic testing panels.
  - Cardiomyopathy Variant Curation Expert Panel
  - Catecholaminergic Polymorphic Ventricular Tachycardia Gene Curation Expert Panel
  - Cerebellar Ataxia Gene Curation Expert Panel
  - Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel
  - Cerebral Palsy Gene Curation Expert Panel
  - Charcot-Marie-Tooth Disease Gene Curation Expert Panel
  - Charcot-Marie-Tooth Disease Variant Curation Expert Panel
  - Childhood, Adolescent and Young Adult Cancer Predisposition Gene Curation Expert Panel
  - Coagulation Factor Deficiency Variant Curation Expert Panel
  - Colon Cancer Gene Curation Expert Panel
  - Complement-Mediated Kidney Diseases Gene Curation Expert Panel
  - Congenital Anomalies of the Kidney and Urinary Tract Gene Curation Expert Panel
  - Congenital Disorders of Glycosylation Gene Curation Expert Panel
  - Congenital Heart Disease Gene Curation Expert Panel
  - Congenital Heart Disease Variant Curation Expert Panel
  - Congenital Myopathies Gene Curation Expert Panel
    The aim of the Congenital Myopathy Gene Curation Expert Panel will be to curate the validity of disease association for genes that have been associated with congenital myopathies.
  - Congenital Myopathies Variant Curation Expert Panel
  - Craniofacial Malformations Gene Curation Expert Panel
  - Desmosomal Cardiomyopathy Variant Curation Expert Panel
  - DICER1 and miRNA-Processing Gene Variant Curation Expert Panel
  - Dilated Cardiomyopathy Gene Curation Expert Panel
  - Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Variant Curation Expert Panel
  - Endocrine Tumor Predisposition Variant Curation Expert Panel
  - ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
  - Epilepsy Gene Curation Expert Panel
    The Epilepsy Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause epilepsy phenotypes. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.
  - Epilepsy Sodium Channel Variant Curation Expert Panel
  - Established Significance Somatic Cancer Variant Curation Expert Panel
  - Familial Hypercholesterolemia Variant Curation Expert Panel
    Familial Hypercholesterolemia is an autosomal disorder of lipid metabolism. Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. Identification of a pathogenic variant in any of these genes provides a definitive diagnosis.
  - Fatty Acid Oxidation Disorders Gene Curation Expert Panel
  - FBN1 Variant Curation Expert Panel
  - Fibroblast Growth Factor Receptor Mutations (SNVs) Somatic Cancer Variant Curation Expert Panel
  - FLT3 (Fms Related Receptor Tyrosine Kinase 3) Somatic Cancer Variant Curation Expert Panel
  - Galactosemia Variant Curation Expert Panel
  - Gastric Cancer Variant Curation Expert Panel
  - General Gene Curation Expert Panel
    The General Gene Curation Expert Panel reviews gene curations that fall outside the purview of ClinGen’s other gene curation expert panels.
  - General Inborn Errors of Metabolism Gene Curation Expert Panel
  - Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel
  - Glaucoma Variant Curation Expert Panel
  - Glomerulopathy Gene Curation Expert Panel
  - Glucose-6-phosphate dehydrogenase Variant Curation Expert Panel
  - GRIN Disorders Variant Curation Expert Panel
  - Hearing Loss Gene Curation Expert Panel
    The Hereditary Hearing Loss Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants cause hearing loss. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.
  - Hearing Loss Variant Curation Expert Panel
    The Hearing Loss Expert Panel aims to specify the existing ACMG guidelines for variant classification in hearing loss genes and review variants for expert classification including resolving discrepancies in existing variant classification in ClinVar prioritizing the most common genes and variants associated to hearing loss.
  - Hemoglobinopathy Variant Curation Expert Panel
  - Hemostasis/Thrombosis Gene Curation Expert Panel
  - Hereditary Angioedema Variant Curation Expert Panel
  - Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel
    The intent is to define gene specifications of the ACMG/AMP rules for the classification of variants in the non-BRCA1/2, non-MMR DNA repair associated breast, ovarian and pancreatic cancer predisposition genes (ATM, BARD1, BRIP1, CHEK2, RAD51C, RAD51D, and PALB2). These genes are all involved in homologous recombination DNA repair and/or cell cycle regulation in response to DNA damage and are often tested concurrently using multigene clinical hereditary cancer testing panels when evaluating patients for mutations conferring increased risk of breast, ovarian, and pancreatic cancer.
  - Hereditary Cancer Gene Curation Expert Panel
  - Hereditary Cardiovascular Disease Gene Curation Expert Panel
  - Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel
  - Heritable Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel
    The aortopathy group used the ClinGen gene:disease clinical validity framework to assess the strength of evidence for genes implicated to be involved in Heritable Thoracic Aortic Aneurysm and Dissection. The group consisted of clinical domain experts in 5 different countries from academic centers with a major interest in genetic aortic disease, and included both clinical experts and molecular geneticists.
  - Histone H3 Somatic Cancer Variant Curation Expert Panel
  - Hypertrophic Cardiomyopathy Gene Curation Expert Panel
    Our group is using the ClinGen gene:disease clinical validity framework to assess the strength of evidence for genes implicated to be involved in Hypertrophic Cardiomyopathy. Group members include cardiologists and genetic counselors with clinical and research expertise, molecular laboratory directors and personnel with experience in cardiology genetics, and curators familiar with the ClinGen clinical validity framework.
  - InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
  - Intellectual Disability and Autism Gene Curation Expert Panel
    The Intellectual Disability/Autism Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause intellectual disability and/or autism. The gene-disease validity curation process includes classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted, and No Known Disease Relationship.
  - Interstitial Lung Disease Gene Curation Expert Panel
  - Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
  - Kidney Cystic and Ciliopathy Disorders Variant Curation Expert Panel
  - Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel
  - Leukodystrophy and Leukoencephalopathy Gene Curation Expert Panel
  - Leukodystrophy and Leukoencephalopathy Variant Curation Expert Panel
  - Limb Girdle Muscular Dystrophy Variant Curation Expert Panel
  - Long QT Syndrome Gene Curation Expert Panel
  - Lysosomal Diseases Gene Curation Expert Panel
  - Lysosomal Diseases Variant Curation Expert Panel
  - Malignant Hyperthermia Susceptibility Variant Curation Expert Panel
  - MAPK/ERK Pathway Somatic Cancer Variant Curation Expert Panel
  - Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel
    In the first project period, we focused on expert curation of variant pathogenicity in the most prevalent and/or actionable causes of Leigh syndrome, Leigh-like syndrome, and pediatric-onset mitochondrial encephalopathy syndromes in both nuclear and mitochondrial DNA, and facilitated by utilization of the Mitochondrial Disease Sequence Data Resource, MSeqDR. We now focus on curating mitochondrial DNA variants as they relate to primary mitochondrial disease (PMD).
  - Mitochondrial Diseases Gene Curation Expert Panel
  - Monogenic Autoinflammatory Diseases Gene Curation Expert Panel
  - Monogenic Diabetes Gene Curation Expert Panel
  - Monogenic Diabetes Variant Curation Expert Panel
    The Monogenic Diabetes Expert Panel will develop a sustainable process for systematic consensus review for pathogenicity and submission to ClinVar of MODY, neonatal diabetes genes, Wolfram syndrome, mitochondrial diabetes and other syndromic genes agreed upon by consensus.
  - Monogenic Systemic and Incomplete Lupus Erythematosus Gene Curation Expert Panel
  - Motile Ciliopathy Gene Curation Expert Panel
  - Motile Ciliopathy Variant Curation Expert Panel
  - Muscular Dystrophies and Myopathies Gene Curation Expert Panel
  - Myeloid Malignancy Variant Curation Expert Panel
    The Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) curates variants in genes associated with inherited risk for myeloid malignancies. Our panel considers variants in genes that cause life-long thrombocytopenia (e.g., RUNX1, ANKRD26, and ETV6) as well as those associated only with cancer risk (e.g., GATA2, DDX41 and CEBPA). The MM-VCEP has collaborated with ASH, and is currently supported by the National Cancer Institute. We aim to encourage standardized variant curation, which will improve variant reporting and facilitate optimal treatment of patients and their families.
  - Neurofibromatoses and Schwannomatosis Variant Curation Expert Panel
  - NTRK Fusions Somatic Cancer Variant Curation Expert Panel
  - Ocular Anterior Segment Disorder Variant Curation Expert Panel
  - Ocular Oncology Variant Curation Expert Panel
  - Optic Nerve Atrophy Variant Curation Expert Panel
  - Parkinson's Disease Gene Curation Expert Panel
  - Parkinson's Disease Variant Curation Expert Panel
  - Pediatric Cataract Variant Curation Expert Panel
  - Peroxisomal Disorders Gene Curation Expert Panel
  - Peroxisomal Disorders Variant Curation Expert Panel
  - Phenylketonuria Variant Curation Expert Panel
  - Platelet Disorders Variant Curation Expert Panel
  - Potassium Channel Arrhythmia Variant Curation Expert Panel
  - Prenatal Gene Curation Expert Panel
  - Primary Immune Regulatory Disorders Gene Curation Expert Panel
  - Propionic Acidemia and Methylmalonic Acidemia Variant Curation Expert Panel
  - PTEN Variant Curation Expert Panel
  - Pulmonary Hypertension Gene Curation Expert Panel
  - Pulmonary Hypertension Variant Curation Expert Panel
  - RASopathy Gene Curation Expert Panel
  - RASopathy Variant Curation Expert Panel
  - Retina Gene Curation Expert Panel
  - Rett and Angelman-like Disorders Variant Curation Expert Panel
  - SCID-CID Gene Curation Expert Panel
  - Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
  - Short QT Syndrome Gene Curation Expert Panel
  - Skeletal Disorders Gene Curation Expert Panel
  - Skeletal Disorders Variant Curation Expert Panel
  - Somatic Mosaicism of Vascular Anomalies Gene Curation Expert Panel
  - Syndromic Disorders Gene Curation Expert Panel
  - Thrombosis Variant Curation Expert Panel
  - TP53 Variant Curation Expert Panel
  - Tubulopathy Gene Curation Expert Panel
  - Urea Cycle Disorders Variant Curation Expert Panel
  - VHL Variant Curation Expert Panel
  - von Willebrand Disease Variant Curation Expert Panel
  - X-linked Inherited Retinal Disease Variant Curation Expert Panel
- Documents & Announcements
  - GenomeConnect - First Quarter 2025 Newsletter
    This is a copy of the GenomeConnect First Quarter 2025 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/7a7f55b84141-genome-connect-2025-q1-newsletter.
  - ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time
  - ClinGen Gene-Disease Validity Curation Module
  - ClinGen Dosage Sensitivity Curation Module
  - ClinGen Variant Pathogenicity Curation Module
  - Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
  - LGMD VCEP frequency exception list
  - GenomeConnect Collaborating Studies (Spanish)
  - Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework
  - Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
  - Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)
  - GenomeConnect Participation Statistics - December 2024
    This document provides a high-level summary of GenomeConnect's data sharing efforts including participation enrollment via GenomeConnect and data sharing partners. These statistics are updated quarterly. The last update was December 31, 2024.
  - ClinGen Quarterly Update October - December 2024
  - GenomeConnect - How to Upload Your Genetic Testing Report
    An important part of participating in GenomeConnect is sharing your genetic test report. This short video explains how to upload your report to GenomeConnect.
  - ClinGen Opportunities
  - GenomeConnect - Fourth Quarter 2024 Newsletter
    This is a copy of the GenomeConnect Fourth Quarter 2024 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/cc99b95a6af5-2024-q4-newsletter.
  - Call for ClinGen Variant Classification Working Group and ClinGen Functional Working Group Co-Chairs and Members
  - ClinGen Manuscript Concept Form
  - ClinGen Publication Policy, Manuscript Concept Form and Checklist
    The purpose of the policies established herein is to encourage and facilitate important analyses while providing guidelines that assure appropriate use of any ClinGen Consortium data, timely completion of manuscripts, and adherence to the principles of authorship.
  - ClinGen Manuscript Checklist
  - ClinGen creates a robust, open-access platform to define the clinical relevance of genes and variants
  - GenomeConnect Consent Form
    Review the GenomeConnect consent form. If you are interested in participating in GenomeConnect, this consent form can be completed online at genomeconnect.org.
  - A guide to gene-disease relationships in nephrology
  - GenomeConnect Collaborating Studies
  - GenomeConnect- Estudios Colaborativos
  - The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
  - ClinGen Quarterly Update July - September 2024
  - Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
  - GenomeConnect - Uploading Results Instructions
    Detailed instructions for how participants can upload their genetic testing report(s) to their GenomeConnect account.
  - Editing GenomeConnect Account Details
    Instructions with screenshots reviewing the steps to update account information on the GenomeConnect registry platform as of September 2024
  - ClinGen for the GA4GH Rare Disease Community
  - Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants
  - Gene-Disease Validity Standard Operating Procedure
  - Gene-Disease Validity Standard Operating Procedures, Version 11
    These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedures, version 11, released in September 2024. A document tracking the changes is provided in the Supporting Materials. It is not required that you review this document, but it may assist in a review of the Standard Operating Procedures.
  - Implementation of a dyadic nomenclature for monogenic diseases
  - Developing a scoring system for gene curation prioritization in lysosomal diseases
  - GenomeConnect - Third Quarter 2024 Newsletter
    This is a copy of the GenomeConnect Third Quarter 2024 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/35a209a4438c-genome-connect-2024-q3-newsletter.
  - Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
  - ClinGen Guidance to VCEPs regarding the use of gnomAD v4
  - GenomeConnect Seizure Sub-Survey
  - Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
  - ClinGen SVI PVS1 Decision Tree Editable
  - Curating Genetic Associations With Rheumatologic Autoimmune Diseases to Improve Patient Outcomes
  - ClinGen Quarterly Update April - June 2024
  - GenomeConnect Participation Statistics - June 2024
    This document provides a high-level summary of GenomeConnect's data sharing efforts including participation enrollment via GenomeConnect and data sharing partners. These statistics are updated quarterly. The last update was June 30, 2024.
  - ClinGen Somatic Cancer CDWG Monthly Meeting Schedule
  - GenomeConnect - Second Quarter 2024 Newsletter
    This is a copy of the GenomeConnect Second Quarter 2024 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/f6d1a1bf4b49-genome-connect-2024-q2-newsletter.
  - Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
  - Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group
  - Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms
  - ClinGen Quarterly Update January - March 2024
  - ClinGen Website Updates - April 2024
  - Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder
  - ClinGen SVI Splicing Subgroup - Response to Feedback
  - ClinGen at ACMG 2024
  - ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
  - ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel COI
  - GenomeConnect - First Quarter 2024 Newsletter
    This is a copy of the GenomeConnect First Quarter 2024 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/e45b14bff7dd-genome-connect-2024-q1-newsletter.
  - ClinGen’s Guidance Classifying Variants in Genes Associated with Multiple Disorders
  - ClinGen Gene Curation Expert Panel (GCEP) Protocol
    The purpose of the Gene Curation Expert Panel (GCEP) Protocol is to provide an outline for the establishment and management of a ClinGen GCEP.
  - ClinGen Quarterly Update October - December 2023
  - GenomeConnect - 2023 Holiday Card
    This is a copy of the GenomeConnect 2023 Holiday Card that is accessible to screen readers. The holiday card is also linked here: https://create.piktochart.com/output/62666937-holiday-card-2023.
  - ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
  - Clinical variants paired with phenotype: A rich resource for brain gene curation
  - Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group
  - GenomeConnect - Fourth Quarter 2023 Newsletter
    This is a copy of the GenomeConnect Fourth Quarter 2023 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/62570026-genomeconnect-2023-q4-newsletter.
  - Evaluating the clinical validity of genes related to hemostasis and thrombosis using the ClinGen gene curation framework
  - GenomeConnect Development Sub-Survey 1
    This subsurvey is assigned to participants who indicate a diagnosis/history of neurodevelopmental and/or behavior differences on their initial survey. The survey intends to collect additional information about the participant's motor, language, and behavior development. The linked survey is in English. The survey is also available in Spanish. Please contact our team at [email protected] should you be interested in translations of the survey.
  - GenomeConnect Development Sub-Survey 2
    This subsurvey is assigned to participants who indicate a diagnosis/history of neurodevelopmental and/or behavior differences on their initial survey. The survey intends to collect additional information about the developmental services the participant has received. The linked survey is in English. The survey is also available in Spanish. Please contact our team at [email protected] should you be interested in translations of the survey.
  - Gene-Disease Validity Standard Operating Procedures, Version 10.1
    These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedures, version 10, released in November 2023. A document tracking the changes is provided in the Supporting Materials. It is not required that you review this document, but it may assist in a review of the Standard Operating Procedures.
  - ClinGen Variant Curation Expert Panel (VCEP) Protocol
  - GenomeConnect Cardiomyopathy Sub-Survey
    This subsurvey is assigned to participants who indicate a diagnosis/history of cardiomyopathy. The survey intends to collect additional information about the participant's diagnosis of cardiomyopathy, treatments, and care. The linked survey is in English. The survey is also available in Spanish. Please contact our team at [email protected] should you be interested in translations of the survey.
  - GenomeConnect Heart Defect Sub-Survey
    This subsurvey is assigned to participants who indicate a diagnosis/history of a heart defect on their initial survey. The survey intends to collect additional information about the participant's diagnosis, treatments, and care. The linked survey is in English. The survey is also available in Spanish. Please contact our team at [email protected] should you be interested in translations of the survey.
  - GenomeConnect Arrhythmia Sub-Survey
    This subsurvey is assigned to participants who indicate a diagnosis/history of arrhythmia. The survey intends to collect additional information about the participant's diagnosis of arrhythmia, treatments, and care. The linked survey is in English. The survey is also available in Spanish. Please contact our team at [email protected] should you be interested in translations of the survey.
  - GenomeConnect Cancer Sub-Survey
    This subsurvey is assigned to participants who indicate a diagnosis/history of cancer. The survey intends to collect additional information about the participant's diagnosis of cancer and care. The linked survey is in English. The survey is also available in Spanish. Please contact our team at [email protected] should you be interested in translations of the survey.
  - Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
  - ClinGen Quarterly Update July - September 2023
  - Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
  - Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
  - ClinGen Curation Activities
  - Gene Curation FAQ
    This is a document that lists frequently asked questions (FAQ) that arise during the gene curation process with examples, explanation, and guidance.
  - GenomeConnect - Third Quarter 2023 Newsletter
    This is a screen reader friendly version of the GenomeConnect Third Quarter 2023 Newsletter. The newsletter is also linked here: https://create.piktochart.com/output/ce2a8a4f5ebb-genome-connect-q3-newsletter.
  - GenomeConnect Sample Wording
    We encourage clinicians and laboratories to add wording about GenomeConnect into testing reports, patient letters, and any other materials sent to patients. We have provided different wording options so that you can select the wording that works best for your practice and/or laboratory.
  - GenomeConnect Genetic Report Review Standard Operating Procedure - 2023
    GenomeConnect participant genetic testing reports are reviewed by trained GenomeConnect team staff. Genomic variant information is collected using this survey tool and the attached Standard Operating Procedure.
  - GenomeConnect Consent Form - Spanish
    GenomeConnect Spanish Consent Form
  - Patient Data Sharing Program Consent
    ClinGen's GenomeConnect is working to better understand the relationship between genetics and health to improve patient care and research. This effort relies on gathering more information through data sharing. The ClinGen GenomeConnect team is working with external registries to share data with ClinVar. GenomeConnect explores how to work with groups on a case-by-case basis. If you have questions about working with GenomeConnect to share data, please contact [email protected]. Some registries have incorporated this consent to enable data sharing. The consent form allows a small number of members of the ClinGen Patient Data Sharing Program Team to access participants’ registry accounts to review their reports and prepare genetic and health data for sharing. All information shared is de-identified. As part of participation in data sharing, registry participants also have the option to receive updates about their genetic testing results from the ClinGen team should we learn that their variant classification on their uploaded report is out of date.
  - Patient Data Sharing Program Consent (Includes Electronic Authorization to Request Results)
    ClinGen's GenomeConnect is working to better understand the relationship between genetics and health to improve patient care and research. This effort relies on gathering more information through data sharing. The ClinGen GenomeConnect team is working with external registries to share data with ClinVar. GenomeConnect explores how to work with groups on a case-by-case basis. If you have questions about working with GenomeConnect to share data, please contact [email protected]. Some registries have incorporated this consent to enable data sharing. The consent form allows a small number of members of the ClinGen Patient Data Sharing Program team to access participants’ registry accounts to review their reports and prepare genetic and health data for sharing. All information shared is de-identified. As part of participation in data sharing, registry participants also have the option to receive updates about their genetic testing results from the ClinGen team should we learn that their variant classification on their uploaded report is out of date. Additionally, this copy of the Patient Data Sharing Program consent includes a question regarding the electronic authorization to request results directly from a clinical laboratory that enables electronic authorization.
  - Guidelines for Applying for Variant or Gene Curation Expert Panel Status
    Summary of available applications and supporting documents for applying for ClinGen Expert Panels status.
  - ClinGen VCEP Recuration Standard Operating Procedure
    ClinGen's recommendations for re-evaluating previously approved variant pathogenicity classifications.
  - Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
  - Defining the clinical validity of genes reported to cause pulmonary arterial hypertension
  - ClinGen Quarterly Update April - June 2023
  - Application of the ACMG/AMP Framework to Capture Evidence Relevant to Predicted and Observed Impact on Splicing: Recommendations from the ClinGen SVI Splicing Subgroup
  - PAR-23-199 – ClinGen Genomic Expert Curation Panels
    The purpose of this Notice of Funding Opportunity (NOFO) is to establish Expert Panels that will select genes and genomic variants associated with diseases or conditions of high priority to participating NIH Institutes and Centers (ICs) and systematically determine their clinical significance for diagnosis and treatment of these diseases or conditions. The Genomic Curation Expert Panels funded through this NOFO are required to utilize the NHGRI Clinical Genomics Resource (ClinGen) and the NCBI ClinVar procedures, interfaces, tools, and informatics infrastructure.
  - ClinGen Guidance and Recommendations for Monogenic Disease Nomenclature
  - GenomeConnect - Second Quarter 2023 Newsletter
    This is a screen reader friendly version of the GenomeConnect Second Quarter 2023 Newsletter. The newsletter is also linked here: https://create.piktochart.com/output/963b9a4c8e9e-23-q2-genome-connect-newsletter
  - GenomeConnect Participation Statistics - April 2023
    This document provides a high-level summary of GenomeConnect's data sharing efforts including participation enrollment via GenomeConnect and data sharing partners. These statistics are updated quarterly. The last update was April 14, 2023.
  - ClinGen Quarterly Update January - March 2023
  - ClinGen Gene Curation Standardized Evidence Summary Text
  - Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation
  - ClinGen’s Approaches for Prioritizing Expert Curation
  - ClinGen ALS VCEP COI
  - Clinical testing panels for ALS: global distribution, consistency, and challenges
  - GenomeConnect - First Quarter 2023 Newsletter
  - ClinGen Somatic SC-VCEP Pilot Guidance
  - ClinGen Interstitial Lung Disease GCEP COI
  - ClinGen Motile Ciliopathy VCEP COI
  - ClinGen Website Updates - January 2023
    January 2023 Release
  - ClinGen Quarterly Update October - December 2022
  - ClinGen Resource Recognized as a Global Core Biodata Resource by Global Biodata Coalition
  - Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
  - ClinGen CMT GCEP COI
  - Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
  - GenomeConnect - Fourth Quarter 2022 Newsletter
  - Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility
  - ClinGen Hereditary Angioedema VCEP COI
  - ClinGen Working Group Conflict of Interest and Use of ClinGen Curation Data Policies
  - Variant Curation Standard Operating Procedure, Version 3
  - Variant Curation Standard Operating Procedure
  - Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
  - ClinGen Partnership Policy and Agreement
  - ClinGen Quarterly Update July - September 2022
  - ClinGen Website Updates - October 2022
  - ClinGen FBN1 Variant Curation Expert Panel COI
  - Brain Malformations Variant Curation Expert Panel COI
  - PTEN Variant Curation Expert Panel COI
  - Myeloid Malignancy Variant Curation Expert Panel COI
  - Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel COI
  - Example Precuration Presentation Video Tutorial
  - ClinGen Overview
  - GenomeConnect - Third Quarter 2022 Newsletter
  - ClinGen Cardiomyopathy Variant Curation Expert Panel COI
  - Phenylketonuria Variant Curation Expert Panel COI
  - CDH1 Variant Curation Expert Panel COI
  - ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel COI
  - ClinGen RASopathy Variant Curation Expert Panel COI
  - ClinGen Glaucoma Variant Curation Expert Panel COI
  - Monogenic Diabetes Variant Curation Expert Panel COI
  - Platelet Disorders Variant Curation Expert Panel COI
  - ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer VCEP COI
  - ClinGen Rett and Angelman-Like Disorders Variant Curation Expert Panel COI
  - ClinGen Cerebral Creatine Deficiency Syndromes COI
  - ClinGen Hearing Loss Variant Curation Expert Panel COI
  - ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel COI
  - TP53 Variant Curation Expert Panel COI
  - ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel COI
  - ClinGen ACADVL Variant Curation Expert Panel COI
  - The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
  - ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
    Release notes from v1.0 to v1.1 The following criteria descriptions wer emodified for clarity based on feedback: PS2 modified to make the distinction between PS2_strong vs PS2_moderate more clear and provide an example within the text; PS3 modified so it is clear the supplementary document applies to the SVI recommendation and not the animal model section; PS4’s upper margins were modified to make it clear that curators should not round off any of the values in Table 2A since it is not possible to obtain a value that is .99 or.49; BA1 and BS1 calculations corrected, rational provided in supplement; BS2 modified to make it clear that either homozygous instances in gnomAD or phenotyped family members can be utilized for this criterion; BP2 modified to indicate that this criterion can be used for either a cis or trans variant; BP4 modified to be consistent with detailed description provided later in the document
  - ClinGen Website Dashboard Overview
  - Using the ClinGen Website Dashboard
  - ClinGen Working Group and Expert Panel Membership: Statement on Expectations for Member Data Sharing
    The purpose of this document is to outline expectations form ClinGen working group or expert panel member data sharing.
  - ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2
    Release Notes from v1.1 to v1.2: Typo corrected, “Variants generating PTCs 5’ of c.1714 of NM_000545.8..." corrected to "Variants generating PTCs 3’ of c.1714 of NM_000545.8...”
  - Gene Curation Interface Help Documents
  - Variant Curation Interface Help Document
  - ClinGen Quarterly Update April - June 2022
  - Gene-Disease Validity Standard Operating Procedures, Version 9
    These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedures, version 9, released in May 2022. A summary of the updates for version 9, as well as a document highlighting the changes are provided in the Supporting Materials. It is not required that you review these documents but may assist in a review of the Standard Operating Procedures.
  - Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
  - Lumping versus Splitting: How to approach defining a disease to enable accurate genomic curation
  - ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1
  - The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
  - ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Familial Hypercholesterolemia VCEP COI
  - ClinGen Antibody Deficiencies GCEP COI
  - ClinGen LGMD GCEP COI
  - ClinGen Syndromic Disorders GCEP COI
  - ClinGen SCID VCEP COI
  - ClinGen LGMD VCP COI
  - ClinGen SCID-CID GCEP COI
  - ClinGen Motile Ciliopathy GCEP COI
  - ClinGen Antibody Deficiencies VCEP COI
  - ClinGen ALS GCEP COI
  - Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
  - ClinGen Quarterly Update January - March 2022
  - ClinGen Website Updates - April 2022
    Several new features were released to the ClinGen Website in April 2022
  - ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1
    Summary of changes from Version 3: (1) Specification of PM5_Supporting to nonsense and frameshift variants that are predicted/proved to undergo nonsense-mediated decay (NMD) or located upstream of the last known pathogenic truncating variant [c.2506G>T (p.Glu836Ter)], (2) Column correction for PM2_Supporting from Moderate column to Supporting column.
  - ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines
    ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A (Version 2) and for OTOF and MYO15A (Version 1)
  - ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents
  - Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions
  - Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions
  - ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2
    Changes from v1: Revised PS4 such that at all strength levels an individual with two VUS/LP/P variants in RYR1 cannot be considered as supporting pathogenicity of either variant., PS1 can be used at level moderate for previously classified likely pathogenic variant at the same codon with the same amino acid change., PM5 can be used at level supporting for previously classified likely pathogenic variant at the same codon, different amino acid change., PM1 should be downgraded to supporting when either PS1 or PM5 are used.
  - ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1
    Changes from v1: Corrected combining rules for LP to include PVS1 + PM2_Supporting = LP
  - ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)
  - ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
  - ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1
  - Standardized Text for ClinGen Variant Curation Expert Panels
  - ClinGen Website Updates - January 2022
    Several new features were released to the ClinGen Website in January 2022
  - GenomeConnect Informational Flyer - Spanish
  - ClinGen Quarterly Update October - December 2021
  - PAR-20-101 and NOT-HD-21-028 –Genomic Expert Curation Panels
    FOA to establish Expert Panels which will use ClinGen and NCBI's ClinVar procedures and infrastructure.
  - ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
    Summary of changes in Version 2: Modifications to PP3 and BP4 (in silico prediction criteria) that affect splice site prediction, including thresholds to use for splice site prediction in silico tools.
  - The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
  - Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
  - Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations
  - Recommendations for future extensions to the HGNC gene fusion nomenclature
  - The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
  - ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2
    Release Notes/Changes from v1.1: Updated for clarification on PM3 and BP2, and typo correction.
  - ClinGen Celebrates Genetic Counselor Awareness Day 2021
    Join our organization in celebrating Genetic Counselor Awareness Day on November 4, 2021.
  - ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1
    Release Notes/Changes from v2: Updated MONDO ID for Glanzmann thrombasthenia from MONDO: 0010119 to MONDO: 0100326
  - Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification
  - ClinGen Dosage Sensitivity FTP Download Files Update
  - CDC/ClinGen collaboration results in a significant new genetic variant resource
  - ClinGen Website Updates - October 2021
    Several new features were released to the ClinGen Website in October 2021
  - ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
    Release Notes/Changes from v1: Typo corrected, “p.Leu197_Leu205del” in v1 replaced with “p.Lys197_Lys205” in v1.1
  - ClinGen Quarterly Update July - September 2021
  - NIH awards $73m to continue building resource of genes and genomic variants for precision medicine
  - Baylor awarded NIH funding for Clinical Genome Resource
  - UNC Awarded $24-million NIH Grant to Improve Genomic, Precision Medicine
  - ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3
  - ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
  - ClinGen Variant Curation Training, Level 1
    Level 1 variant curation training aims to familiarize variant biocurators with general variant assessment information and ClinGen procedures/resources.
  - ClinGen Variant Curation Training, Level 2 (VCEP-specific)
    Level 2 variant curation training aims to educate the biocurator on the specific ACMG/AMP guideline specifications and variant assessment procedures outlined by their assigned variant curation expert panel (VCEP).
  - ClinGen Publication Policy
    The purpose of the policies established herein is to encourage and facilitate important analyses while providing guidelines that assure appropriate use of any ClinGen Consortium data, timely completion of manuscripts, and adherence to the principles of authorship.
  - ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Application for Variant Curation Expert Panel Status
  - GenomeConnect - Updated Genetic Information Email
  - ClinGen Lysosomal Storage Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
  - Evaluating the impact of in silico predictors on clinical variant classification
  - Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project
  - GenomeConnect Informational Flyer
    One page informational handout summarizing participation in GenomeConnect.
  - ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
  - ClinGen Quarterly Update April-June 2021
  - 1st Annual ClinGen Excellence Awards
  - GenomeConnect - Where Data is Shared - Spanish
  - Bold Predictions for Human Genomics by 2030: Session 4: Research in human genomics will have moved beyond population descriptors based on historic social constructs such as race.
  - Dosage Standard Operating Procedure- Data Entry
  - ClinGen Website Updates - June 2021
    Several new features were released to the ClinGen website in June 2021
  - Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
  - Somatic Oncogenicity SOP
  - Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
  - Dosage Standard Operating Procedure- Scoring Guide
  - Application of a framework to guide genetic testing communication across clinical indications
  - ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
    Release Notes/Changes from v1: Corrected formatting and typos (April 2021)
  - ClinGen Website Updates - April 2021
    Several new features were released to the ClinGen website in April 2021
  - International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
  - ClinGen Quarterly Update January-March 2021
  - Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility
  - Improving reporting standards for polygenic scores in risk prediction studies
  - VHL Variant Curation Expert Panel COI
  - ClinGen Hereditary Cancer Gene Curation Expert Panel COI
  - ClinGen Kidney Cystic and Ciliopathy VCEP COI
  - ClinGen Somatic Cancer Variant Curation Expert Panel (SC-VCEP) Application
  - ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2
  - ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel COI
  - ClinGen Craniofacial Malformations GCEP COI
  - ClinGen Website Updates
  - ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Website Updates - February 2021
    Several new features were released to the ClinGen website in February 2021
  - ClinGen Aminoacidopathy Gene Curation Expert Panel COI
  - Variant Curation Standard Operating Procedure, Version 2
  - Upcoming change to Dosage Sensitivity FTP files
  - Application for Gene Curation Expert Panel Status
  - Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel
  - The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation
  - Baseline Annotation Overview, Version 1
  - ClinGen Quarterly Update October-December 2020
  - Baseline Annotation Overview
  - Transcript Overview, part 3
  - ClinGen Website Updates - January 2021
    Several new features were released to the ClinGen website in January 2021
  - Genetic Evidence Scoring Metric, SOP Version 8
    Scoring metric to guide curators in assessing genetic evidence using ClinGen's SOP Version 8.
  - Gene Curation Coalition Launches GenCC Database
  - Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
  - Malignant Hyperthermia Susceptibility VCEP Application
  - Familial Hypercholesterolemia VCEP Application
  - ClinGen Somatic Cancer Variant Curation Expert Panel (SC-VCEP) Process
  - ClinGen Patient Data Sharing Program Release
  - ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - GenomeConnect Coriell Flyer
  - Basic Autosomal Dominant Example: KLHL24 and Generalized Epidermolysis Bullosa Simplex
    An example of a basic AD curation with predominantly de novo variants.
  - Basic Autosomal Dominant Example: LRP6 and Non-Syndromic Oligodontia
    An example of a basic AD curation with variants segregating with disease in families.
  - Basic Autosomal Recessive Example: REEP6 and Retinitis Pigmentosa
    An example of basic AR curation with variants segregating with disease in families.
  - Basic X-linked Example: BGN and Spondyloepimetaphyseal Dysplasia
    An example of basic X-linked curation with variants segregating with disease in families.
  - Segregation Analysis
    An overview of segregation analysis using the most current version of the Gene-Disease Clinical Validity Standard Operating Procedure.
  - Gene-Disease Validity Classifications Tutorial
  - Gene-Disease Validity Scoring Overview Tutorial
  - Gene-Disease Validity Standard Operating Procedures, Version 8
    These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedure, version 8, released on October 28, 2020. A summary of the updates for version 8, as well as a highlighted and annotated pdf version are provided.
  - ClinGen Quarterly Update July-September 2020
  - ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Expert Interpretation of Genes and Variants in Hereditary Hearing Loss
  - Specifications of the ACMG/AMP Standards and Guidelines for Mitochondrial DNA Variant Interpretation
  - PM2: Recommendation for Absence/Rarity Criterion PM2 (Version 1.0)
  - ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
  - ClinGen GRIN COI
  - ClinGen Adult Actionability Working Group Protocol
  - ClinGen Pediatric Actionability Working Group Protocol
  - Data Sharing Policy for Contributors of Data for ClinGen Gene-Disease Clinical Validity Curation
    Further information and policy for data contributors
  - ClinGen Complex Disease PRS Reporting Standards
  - ClinGen Quarterly Update April-June 2020
  - Thrombosis Variant Curation Expert Panel COI
  - Hemostasis/Thrombosis Gene Curation Expert Panel COI
  - von Willebrand Disease Variant Curation Expert Panel COI
  - Coagulation Factor Deficiency Variant Curation Expert Panel COI
  - Platelet Disorders VCEP Application
  - ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures
  - ClinGen Education and Training Opportunities
  - GenomeConnect - Genetic Test Report Release Form
  - CIViC - Adding Source Suggestions
  - SVI Functional Assay Documentation Worksheet
  - ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Adult Actionability Working Group Slides
  - ClinGen Quarterly Update January-March 2020
  - How I Curate: Applying American Society Of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel Rules For RUNX1 Variant Curation For Germline Predisposition To Myeloid Malignancies
  - Dilated Cardiomyopathy Gene Curation Expert Panel COI
  - ClinGen Posters in ACMG Poster Gallery
  - ClinGen Variant Curation Interface (VCI) Terms of Use, User Agreement
  - Recommended Terminology for Variants with Decreased Penetrance for Mendelian Conditions
    Recommendations from the ClinGen Low-Penetrance/Risk Allele Working Group on the terminology needed to categorize both risk alleles and low-penetrance Mendelian variants.
  - An International, Multicentered, EvidenceBased Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
  - Limb Girdle Muscular Dystrophy Gene Curation Expert Panel COI
  - ClinVar Celebrates Submission of One Millionth Submitted Record
  - Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
  - ClinGen Quarterly Update October-December 2019
  - Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
  - Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
  - ClinGen Celebrates Genetic Counselor Awareness Day
    Join our organization in celebrating Genetic Counselor Awareness Day on November 14, 2019.
  - Technical Standards for the Interpretation and Reporting of Constitutional Copy-Number Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
  - A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)
  - ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
  - ClinGen Quarterly Update July-September 2019
  - GenomeConnect - Where Data is Shared
    List of databases where data from GenomeConnect and the Patient Data Sharing Program are shared.
  - ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
  - ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
  - ClinGen Lysosomal Storage Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Gene-Disease Validity Standard Operating Procedures, Version 7
    These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedure, version 7, released on August 12, 2019. A summary of the updates for version 7, as well as a highlighted and annotated pdf version are provided.
  - GenomeConnect - Winter 2017 Newsletter
    The Winter 2017 Newsletter summarizes the GeomeConnect participant matching feature, GenomeConnect presentations in 2016, and the option to participate in additional research.
  - GenomeConnect Summer 2019 Newsletter
    The Summer 2019 GenomeConnect Newsletter provides a participation update, the need to reconsent at age 18, and provides information on candidate genes.
  - GenomeConnect Winter 2018 Newsletter
    The Winter 2018 GenomeConnect Newsletter includes a timeline of genetics, information about the exome vs. genome, and a reminder for participants to update their account preferences regarding updates about their genetic test results!
  - GenomeConnect Spring 2018 Newsletter
    The Spring 2018 Newsletter includes information about Gregor Mendel, GenomeConnect data sharing to date, and how participants can make sure their data is shared!
  - GenomeConnect Fall 2018 Newsletter
    The Fall 2018 GenomeConnect Newsletter includes an update on GenomeConnect participation, information about how GenomeConnect is working with other registries to share data, summaries of inheritance pattern, and points to consider before downloading raw data from at-home genetic testing.
  - GenomeConnect Winter 2019 Newsletter
    The Winter 2019 GenomeConnect Newsletter provides a participation update, information on mitochondria, directions for participants to update their accounts, and privacy considerations.
  - GenomeConnect Fall 2017 Newsletter
    The Fall 2017 GenomeConnect Newsletter provides an enrollment update, information about types of genetic test results, how to celebrate family history day, and a chance to meet the genetic counselors on the GenomeConnect team!
  - GenomeConnect Spring 2017 Newsletter
    The Spring 2017 GenomeConnect Newsletter celebrates the 1000th GenomeConnect participant, encourages participants to update their account preferences, provides information about additional research, and highlights the importance of uploading your genetic testing report.
  - Patient Data Sharing Program Informational Handout
    ClinGen has engaged patients in data sharing for nearly five years through its own patient registry, GenomeConnect. Given our experience with GenomeConnect, we are now working with other patient registries to enable sharing of de-identified genetic and health information.
  - GenomeConnect Data Sharing Update - ACMG 2019
  - Patient Data Sharing Program Recruitment Toolkit
    The Patient Data Sharing recruitment toolkit provides resources for registry and advocacy groups that are working to share data through the Patient Data Sharing Program. Resources in the toolkit include talking points, a program overview, social media posts, press release language, and more.
  - GenomeConnect Overview Video
  - GenomeConnect - Obtaining a Copy of Your Genetic Test Report
  - How Can Genomic and Health Data Shared by Patients Inform Variant Classification
    This video provides an introduction to patient data sharing and provides information on how patient-shared genotype and phenotype data can inform variant classification.
  - ClinGen Congenital Myopathies Gene Curation Expert Panel COI
  - ClinGen TP53 Variant Curation Expert Panel Application
  - ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Hypothes.is Gene Annotation SOP
    Hypothes.is is a web-based annotation tool. An SOP has been developed using standardized terms for evidence capture to augment the ClinGen Gene Clinical Validity Curation Process. This tool has been shown to reduce curation time and facilitate data transfer into the Gene Curation Interface.
  - Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework
  - The CIViC Knowledge Model and Standard Operating Procedures for Curation and Clinical Interpretation of Variants in Cancer
  - ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Quarterly Update April-June 2019
  - Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
  - PM3: Recommendation for in trans Criterion PM3 (Version 1.0)
  - Sequence Variant Literature Search Tips and Tricks
  - Variant Curation Standard Operating Procedure, Version 1
  - Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders
  - ClinGen Long QT Syndrome Gene Curation Expert Panel COI
  - ClinGen Arrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel COI
  - ClinGen KCNQ1 Variant Curation Expert Panel COI
  - MDEP_ExpertPanelApplication_Step1
  - Interpreting Genomes: Variant Curation Video
  - Using the ClinGen Allele Registry
  - Stakeholder Partnership Forum at Curating the Clinical Genome (CCG) 2019
    The ClinGen Stakeholder Partnership WG is hosting a forum to broadly engage our industry stakeholder community towards informing future development of the ClinGen Resource. (Wednesday, May 29th 3:30-5:30 pm)
  - ClinGen Quarterly Update January-March 2019
  - Gene Disease Validity General Training Presentation
    Updated February 2018. Focuses on how to use the curation spreadsheet, but also provides general instruction on gene disease validity process.
  - Intellectual Disability and Autism Gene Curation Expert Panel COI
  - Fatty Acid Oxidation Disorders Gene Curation Expert Panel COI
  - Mitochondrial Diseases Gene Curation Expert Panel
  - Breast/Ovarian Cancer Gene Curation Expert Panel COI
  - Colon Cancer Gene Curation Expert Panel COI
  - GenomeConnect Health Survey
    Our online health survey is designed to capture a snapshot of participant's overall health. We want to know as much as we can about their health, from their head to their toes! Questions are organized by body system (digestive system, immune system, cardiovascular system, etc.), and participants can skip any questions that they do not feel comfortable answering. Participants are asked to update this each year or as anything changes with their health. Additionally, depending on their answers to this survey, they may be asked to complete follow-up surveys in the future if we need more information about any of their specific health issues. External groups are welcome to use and modify these surveys, though we do ask to be cited/credited where appropriate. The health survey has also be translated into Spanish by the GenomeConnect team and, thanks to CombinedBrain, into several other languages including Italian, French, German, Hebrew, Korean, and Brazilian Portuguese. Translations can be requested by contacting [email protected].
  - ClinGen Epilepsy Gene Curation Expert Panel COI
  - ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene–Disease Pairs
  - Gene-Disease Validity Recuration Process
    ClinGen's recommendations for re-evaluating previously approved gene-disease validity classifications.
  - Genetic Evidence Scoring Metric
    Scoring metric to guide curators in assessing genetic evidence. This version of the genetic evidence scoring metric was used for Version 7 of the ClinGen SOP.
  - Clinical Validity Classifications
    The Clinical Validity Classifications are used to qualitatively describe the strength of evidence documenting a gene-disease association. Note: these terms do not reflect the effect size or relative risk attributable to variants in a particular gene.
  - Supplemental Methods for Validation
    Brief description of how the gene-disease pairs in the original publication were validated.
  - Lumping and Splitting Curation Guidelines (Version 1)
  - Precuration Evidence Tracking Template
  - Summary Scoring Metric
    Once genetic and experimental evidence has been assessed, this summary scoring metric can be used to arrive a clinical validity classification.
  - Experimental Evidence Scoring Metric
    Scoring metric to guide curators in assessing experimental evidence.
  - ClinGen RASopathy Gene Curation Expert Panel COI
  - Methods for Validation of Curation Framework
  - Gene Disease Validity SOP Version 5 Appendix B
    Appendix B to SOP version 5 was originally released as a separate document. This information was included in the main SOP document, Version 6.
  - Overview of the Clinical Actionability evaluation process
    Overview of the clinical actionability evaluation process, prepared February 2017
  - Semi-quantitative Scoring Metric
    Specific outcome-intervention pairs are scored for (i) severity of the outcome; (ii) likelihood of the disease; (iii) effectiveness of the intervention; and (iv) nature of the intervention in terms of burden and risk to the patient.
  - Changes to Clinical Laboratories Meeting Minimum Requirements for Data Sharing to Support Quality Assurance
    Changes to minimum requirements will go into effect January 1, 2020.
  - Website Privacy Policy
  - FDA Recognizes ClinGen Assertions in ClinVar - Frequently Asked Questions
    The ClinGen expert curated variants are available for unrestricted use in the community via ClinVar, an archive which is funded and maintained by NIH’s National Center for Biotechnology Information, part of the National Library of Medicine.
  - ClinGen and the All of Us Genetic Counseling Resource
    ClinGen's resources and practices may be of use for the All of Us Genetic Counseling Resource described in NIH Funding Opportunity NOT-PM-19-001.
  - Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
  - A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
  - Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
  - Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels
  - Lumping and Splitting Video Tutorial
  - Benefits of Sharing Variant Classifications and Evidence with ClinVar
  - Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
  - Evidence-Based Assessments of Clinical Actionability in the Context of Secondary Findings: Updates from ClinGen’s Actionability Working Group
  - ClinGen advancing genomic data-sharing standards as a GA4GH driver project
  - The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
  - Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
  - Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
  - ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation
  - ClinVar database of global familial hypercholesterolemia-associated DNA variants
  - ClinVar at five years: Delivering on the promise
  - Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
  - Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
  - Updated recommendation for the benign stand-alone ACMG/AMP criterion
  - Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
  - Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
  - The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria
  - ClinGen Allele Registry links information about genetic variants
  - The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics
  - The progression of the ClinGen gene clinical validity classification over time
  - Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards
  - ClinGen's GenomeConnect registry enables patient-centered data sharing
  - Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
  - Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
  - Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
  - ClinGen and ClinVar – Enabling Genomics in Precision Medicine
  - ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future
  - Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
  - Gene-Disease Validity Standard Operating Procedures, Version 6 (Archived)
  - ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Academic, Non-Profit, and Commercial Collaboration Policy
    Principles of ClinGen collaborations with academic, non-profit, and commercial entities.
  - ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Clinical Genetic Testing for Familial Hypercholesterolemia
  - BA1 Exception List
  - Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs
  - A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants
  - Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background
  - Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
  - Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting
  - ClinVar Miner: Demonstrating Utility of a Web-based Tool for Viewing and Filtering ClinVar Data
  - CIViC - Getting Started
  - CIViC - Editing Entities
  - Adding Evidence to CIViC
  - ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Pediatric Actionability Working Group Training
  - PS2/PM6: Recommendation for de novo PS2 and PM6 ACMG/AMP criteria (Version 1.1)
    Updated May 2021, changes from v1: Clarified that confirmed/assumed is with regards to parental relationships and not de novo status
  - The ACMG/AMP Reputable Source Criteria for the Interpretation of Sequence Variants
  - ClinGen's RASopathy Expert Panel consensus methods for variant interpretation
  - Cardiomyopathy Expert Panel and Association for Clinical Genomic Science Collaboration
    The ClinGen Inherited Cardiomyopathy Expert Panel (CMP-EP) has entered into a formal affiliation with the United Kingdom’s Association for Clinical Genomic Science (ACGS).
  - Points to consider for sharing variant level information from clinical genetic testing with ClinVar
  - Citing ClinGen & Terms of Use
  - ClinGen Gene-Disease Scoring Overview [Video]
  - Scoring experimental evidence for gene curation [Presentation]
  - Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
  - Modeling the ACMG/AMP variant classification gudielines as a Bayesian classification framework
  - ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research
  - ClinGen Expert Panel Conflict of Interest Policy (Archived)
  - ClinGen Sequence Variant Interpretation Working Group recommendations for ACMG/AMP guideline criteria code modifications nomenclature
  - Gene-Disease Validity Standard Operating Procedures, Version 5 (Archived)
    Version 5 of the SOP, released November 2017.
  - Use of case-control studies for curation [Presentation]
  - ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
  - Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
  - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
    The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.
  - Gene-Disease Validity Standard Operating Procedures, Version 4 (Archived)
    Version 4 of the SOP, released May 2017.
  - Gene Disease Validity Scoring case-level variant evidence for gene curation 2 [Presentation]
  - Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
  - Gene Disease Validity Scoring case-level variant evidence for gene curation 1 [Presentation]
  - Systematic Assessment Of Clinical Actionability Associated With Genomic Variation
  - ClinGen one-page consent form for broad genomic data sharing [English]
  - ClinGen one-page consent form for broad genomic data sharing [French]
  - ClinGen one-page consent form for broad genomic data sharing [Chinese]
  - ClinGen one-page consent form for broad genomic data sharing [Spanish]
  - ClinGen broad genomic data sharing brochure [French]
  - ClinGen broad genomic data sharing brochure [English]
  - ClinGen broad genomic data sharing brochure [Spanish]
  - ClinGen broad genomic data sharing brochure [Chinese]
  - Clinical Broad Data Sharing Consent Video Resource [English]
  - Clinical Broad Data Sharing Consent Video Resource [French]
  - Clinical Broad Data Sharing Consent Video Resource [Spanish]
  - Clinical Broad Data Sharing Consent Video Resource [Chinese]
  - Overview of ClinVar [Presentation]
  - Overview of the Allele Registry [Presentation]
  - ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
  - Cardiovascular In-Person Meetings
  - Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine
  - Somatic cancer variant curation and harmonization through consensus minimum variant level data
  - REVEL: An ensemble method for predicting the pathogenicity of rare missense variants
  - A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research
  - Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard
  - Variant of Uncertain Significance (VUS) Result Updating Practice Performance Modules (CCP Part IV)
    For clinical geneticists and other clinicians who are involved in the clinical care of patients that have received a variant of uncertain significance (VUS) through genetic testing.
  - A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing
  - A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
  - Using ClinVar as a Resource to Support Variant Interpretation
  - General Postnatal Phenotype Form
  - ClinVar Submission Template, CNV fields highlighted (October 2016) (xlsx)
    Be sure to download the latest ClinVar submission template from the ClinVar FTP site. An example spreadsheet (current October 2016) is provided below; fields that are relevant for copy number variant submissions are highlighted in gree (required) and light green (optional). Upload your file to the ClinVar Submission Portal. If you have any questions or problems, contact ClinVar at [email protected].
  - Sample Protocol: Cytogenomic Microarray Data ONLY
  - Sample Protocol: Sequence Variant Data ONLY
  - Sample Protocol: Cytogenomic Microarray AND Sequence Variant Data
  - ClinGen and ClinVar Partnership
  - ClinVar and ClinGen: Partners in Curating the Clinical Genome
  - Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup
  - GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge
  - ClinGen - The Clinical Genome Resource
  - Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence
  - Lack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants.
  - Position Statement from Principal Investigators on Licensed Databases and Plans for the Global Sharing of Variant Data
    Summarizes the position of ClinGen Principal Investigators on licensed databases and data sharing.
  - Position Statement from Principal Investigators on Licensed Databases and Plans for the Global Sharing of BRCA1 and BRCA2 Data
    Summarizes the position of ClinGen Principal Investigators on licensed databases and the sharing of BRCA1/2 data.
  - Genomic variation: lessons learned from whole-genome CNV analysis
  - Characterizing genetic variants for clinical action
  - Chromosomal microarray impacts clinical management
  - Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies
  - Towards an evidence‐based process for the clinical interpretation of copy number variation
  - Variant Interpretation and the ClinGen Curation Interface Tool
    Presentation by Steven Harrison, PhD from the 2018 Interpreting Genomes for Rare Disease course.
  - Variant Interpretation Discrepancy Resolution Form (Performance and Practice - Part IV)
    A module for clinical laboratory geneticists who are involved in the interpretation of genomic variants and are actively submitting variants to the ClinVar database. This module is available for Part IV Practice Improvement Credit through the American Board of Medical Genetics and Genomics (ABMGG).
- Tools
  - About ClinGen's Website
    Learn about the features available on ClinGen's website, the external sources it utilizes, and how to cite ClinGen's work.
    - Data Attribution
    - How To Cite ClinGen
  - Allele Registry
    Provides unique allele identifiers
  - Ancestry and Diversity Forum
    - Ethics & Inclusivity in Genetics Education: Challenges and Paths Forward
    - Defining Sex: The Mis/Use of Genomics and the Law (10/7/2024)
    - Advancing Sexual & Gender Minority Research at the NIH & Beyond (8/5/2024)
    - Genetic Ancestry: Algorithms and Applications (5/6/2024)
    - A Capability Approach to Ethics-Based Auditing in Medical AI (4/1/2024)
    - Why Genetic Ancestry Matters in Gene Mapping & Genetic Discovery: Coronary Artery Disease (2/5/2024)
    - AI Bias in Medicine (11/6/2023)
    - Reliability of Patient Self-Identified Race, Ethnicity, and Ancestry in Clinical Genetic Testing (4/3/2023)
    - Biogeographical Groups for Pharmacogenomic Study Annotation (3/6/2023)
    - Genetics, Genomics, and Epidemiology of Gastric Cancer in Diverse Patient Populations (2/6/2023)
    - Investigating Ancestry, Diversity and Disease Association through the Human Leukocyte Antigen (HLA) Lens (12/5/2022)
    - Residual Carrier Risks Based on Ancestry / Ethnicity are Based on Flawed Data (11/7/2022)
    - How do we Deliver Precision Health at Scale for All? (10/3/2022)
    - Interpreting Genomic Variants for Inherited Cancer Risk and ELSI Considerations (8/1/2022)
    - Diversity Measures in Genomic Medicine (5/2/2022)
    - Cultivating Diversity as an Ethos with an Anti-Racism Approach in the Scientific Enterprise (3/7/2022)
    - The Human Pangenome Project: Creating a Reference that Better Represents Human Genetic Diversity (2/7/2022)
    - Getting Genetic Ancestry Right for Science and Society (12/6/2021)
    - High Resolution Ancestry Inference for Biobank Scale Data (10/25/2021)
    - Indigeneity within datasets: DNA sequences journeys and genomic representations about the Karitiana (Yjxa) people (8/2/2021)
    - Embracing Genetic Diversity to Improve Black Health (6/7/2024)
    - Why Study Genetic Diversity in African Populations? (5/3/2021)
    - Guidelines on the Use and Reporting of Race, Ethnicity, and Ancestry in TOPMed (4/5/2021)
    - ClinGen DEI Action Plan Review (Part III) 3/1/2021
    - ClinGen DEI Action Plan Discussion (Part II) 1/4/2021
    - ClinGen DEI Action Plan Initiation (Part I) 12/7/2020
    - Human Population Genetic Variation Data in dbSNP with GRAF-pop and the Allele Frequency Aggregator (11/2/2020)
    - Updates from the ClinGen Ancestry and Diversity Working Group (10/5/2020)
    - Race/Ethnicity in hospital records systems: What are we really capturing? (7/6/2020)
    - Genetic Ancestry of COVID-19 Patients: A Discussion on Racial and Ethnic Disparities (6/1/2020)
    - Population structure within populations: a story of Alzheimer's disease (12/2/2019)
    - Racial and Ethnic Classification in the Clinic: Is it Just? (11/4/2019)
    - Constructing Identities: DTC Genetic Ancestry Testing and Tribal Communities (10/7/2019)
    - Diversity Measures in Precision Medicine: Clinical Requisition Forms (8/5/2019)
    - Historical and Contemporary Considerations in Human Population Health Research (6/3/2019)
    - Biomarkers and Prediction Across Populations: Quantifying the Genetic Basis of Serum and Urine Labs (5/6/2019)
    - Survey of Clinical Genomics Professionals & Researchers on Race, Ethnicity, Ancestry, and Diversity (4/1/2019)
    - A content analysis of the views of genetics professionals on race, ancestry and genetics (3/4/2019)
    - Get Involved
  - Biocurator Educational Materials
    The Biocurator Educational Materials page provides links to videos of Biocurator Working Group calls on various topics, and links to additional useful websites and materials. We hope that you find these resources to be helpful.
    - All Training Materials
    - Actionability Topics
      - Curation process and ACI
    - General Curation Topics
    - Gene Disease Validity Topics
    - Variant Interpretation Topics
    - FAQ & Help
    - Somatic Cancer Topics
      - Somatic Cancer Working Group
    - BCWG Presentations
  - CADRe (Consent & Disclosure Recommendations)
    The CADRe model provides support for genetic testing consent and disclosure discussions with the aim of improving access to genetic information while meeting patients’ psychosocial and informational needs.
  - ClinGen Actionability Working Group Topic Nomination Form
    To submit a gene-condition topic to the ClinGen Actionability WG for consideration, please complete this form. Provide as much detail as you have. Please submit a separate form for each gene-condition topic you would like to nominate.
  - ClinGen Curation Modules
    These modules are intended to provide learners with educational credit for participating in ClinGen curation activities.
    - ClinGen Gene-Disease Validity Curation Module
    - ClinGen Dosage Sensitivity Curation Module
    - ClinGen Actionability Curation Module
    - ClinGen Variant Pathogenicity Curation Module
  - ClinGen Data Sharing & Modeling Standards
    The website is dedicated to providing updates on developments and documentation on the Data Exchange platform, data models and tools produced by the ClinGen Data Exchange Working Group.
  - ClinGen Newsletter Signup
  - ClinGen on LinkedIn
    ClinGen shares news and updates on LinkedIn, make sure to follow.
  - ClinGen Summer Workshop Series 2023
    - Recordings
    - Planning Committee
    - A Single Integrated Pharmacogenomics (PGx) Resource
    - GenomeConnect - Using Genomic and Health Data Shared by Patients in ClinGen Curation Efforts
    - Overview of DRAFT ACMG/AMP v4 Sequence Variant Guidelines
  - ClinGen Twitter Feed
    @ClinGenResource - Where you can stay up to date with what is going on at ClinGen and also track what we find interesting.
  - ClinGen Variant Curation Expert Panel Procedures and Resources
    A list of resources related to the process of curating, assessing and classifying a variant through a ClinGen-approved Variant Curation Expert Panel (VCEP). Updates to these resources are versioned over time and the most updated version is available on the website.
  - ClinGen Virtual Retreat 2021
    Lectures and recordings from a two-day virtual workshop June 24 to June 25, 2021.
    - Welcome and Introduction
    - ACMG/AMP Rule Specification for VCEPs (Breakout Session 1)
    - Somatic Cancer Clinical Domain Working Group (Breakout Session 2)
    - Accessing ClinGen Data (Breakout Session 3)
    - Best Practices for GCEPs and VCEPs (Main Session)
    - ClinGen Contributor Perspectives (Main Session)
    - ClinGen Overview, GenomeConnect, and ClinVar (Breakout Session 4)
    - Lumping and Splitting/Mondo Disease Ontology (Breakout Session 5)
    - ClinGen Allele Registry, VCI & GCI (Breakout Session 6)
    - Navigating ClinGen Resources (Breakout Session 7)
    - Benefits of Web Assisted Annotation for Biocuration (Breakout Session 8)
    - Complex Disease Working Group & Low Penetrance/Risk Allele Working Group (Breakout Session 9)
    - ACMG/AMP Updated Guidelines and Engaging Underrepresented Groups in ClinGen (Main Session)
    - Planning Committee
  - ClinGen Volunteer Expert Survey
    Interested in contributing your expert knowledge and/or data to a ClinGen expert panel? Please consider volunteering as an expert. Expert members of VCEPs and GCEPs contribute diverse areas of expertise.
  - ClinGen Volunteer Survey
    Interested in volunteering for curation efforts, take our survey! Please tell us more about your interests, expertise, and desired level of involvement so we can pair you with an appropriate curation activity and/or Expert Panel.
  - ClinGen YouTube Channel
    Where you can stay up to date with webinars, presentations, training videos, and other video resources developed or shared by ClinGen.
  - Clinical Actionability Tools
    Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known. The interface is currently restricted to Clinical Actionability curators.
  - Clinical Broad Data Sharing Consent Resources
    Consent template for broad data sharing
    - One Page Consent Form
    - Brochure
    - Videos
  - Clinical Genomics Careers Panel Series
    Recordings from a multi-part, virtual panel series on various careers in genomics.
    - Genetic Counselors - June 26th at 2pm ET
    - Clinical Laboratory Career Opportunities - July 2nd 2pm ET
    - Physician Clinicians - July 9th 2pm ET
    - Research, Development, and Other Opportunities - July 16th 2pm ET
    - Stepping Stone Careers- July 23rd at 2pm ET
    - 2021 ClinGen Genomics Careers Panel Series Recordings
    - 2022 ClinGen Genomics Careers Panel Series Recordings
    - 2023 ClinGen Genomics Careers Panel Series Recordings
  - Clinical Genomics Laboratory Community
    Get Involved! Visit this page if you're a clinical genomics laboratory, or a platform or database that supports these laboratories.
  - Clinical Laboratories Meeting Minimum Requirements for Data Sharing to Support Quality Assurance
    View list of clinical labs who meet a minimum standard of data sharing
  - ClinVar Miner
    Tool for exploring ClinVar data at different levels of granularity
  - CNV Technical Standards Web Series
    A multi-part web series to educate the community about the newly released ACMG/ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs).
    - FAQ
    - Examples
    - Overview: Updated Technical Standards for Constitutional CNVs
    - Use of the ClinGen Dosage Sensitivity Map
    - Scoring Case-Level Data
    - Special Considerations in the Evaluation of Intragenic CNVs
    - Understanding Case-Control Data
    - Resources for Population CNV Data: gnomAD SV
    - Resources for Population CNV Data: Database of Genomic Variants (DGV)
    - Uncoupling Variant Classification from Clinical Significance: Considerations for Reporting
    - General Questions and Answers
    - ClinGen CNV Analysis Group
    - Challenging Cases Submission
    - Implementation Experiences
  - Criteria Specification Registry (CSpec)
    The ClinGen Criteria Specification(CSpec) Registry is a centralized database designed for the management and maintenance of Criteria Specifications of ACMG evidence codes for variant pathogenicity classification defined by the ClinGen Variant Curation Expert Panels. The CSpec Registry supports the storage of the VCEP Criteria Specifications in a structured, machine-readable format.
  - Dosage Sensitivity Tools
    The ClinGen Dosage Sensitivity tools aid the curation process that collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions. The interface is currently restricted to Dosage Sensitivity curators.
  - Evidence Repository
    Expert curated interpretations for variants' pathogenicity.
  - Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project
  - GenCC Database
    The GenCC Database aggregates information pertaining to the validity of gene-disease relationships submitted by GenCC member organizations.
  - Gene-Disease Validity Tools
    ClinGen's Gene-Disease Clinical Validity tools support evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease. The interface is currently restricted to Gene Curation curators.
  - Genomic Analysis Software Platforms Meeting Minimum Requirements for Data Sharing to Support Quality Assurance
    View list of genomic analysis software platforms that meet a minimum standard to support data sharing
  - Genomic Websites & OpenInfoButton Resources
    A comprehensive list of genomics resources outside of ClinGen and information about how to utilize Open InfoButton.
  - Group and Personnel Management System
    The ClinGen Group and Personnel Management (GPM) System offers functionality to track information related to ClinGen Working Group and Expert Panel membership. This system is restricted to ClinGen personnel.
  - Group and Personnel Management System FAQ
    Learn more about how to use the ClinGen Group and Personnel Management (GPM) by reviewing GPM Frequently Asked Questions.
  - H3Africa Rare Disease Working Group and ClinGen Workshop
    Lectures and recordings from a three-day virtual workshop February 3 to February 5, 2021.
    - Workshop Agenda
    - Introduction to Genome Analysis
    - Use of the Genome Aggregation Database (gnomAD)
    - Gene-Disease Validity Curation
    - Creating Global Resources to Support Variant Classification
    - Variant Classification using ACMG/AMP Interpreting Sequence Guidelines
    - Use of and Submission to ClinVar
    - Establishing Expert Panels in ClinGen
    - Hands on Variant Curation Interface Training
    - Hands on Help with Submission to ClinVar
    - Lumping and Splitting Guidelines for Curating Disease Relationships
    - ClinGen Somatic Cancer Variant Interpretation and Resources
    - Clinical Actionability Curation
    - Using the ClinGen Allele Registry, Evidence Repository and Linked Data Hub
    - Copy Number Variant Interpretation/Dosage Sensitivity Curation
    - GenomeConnect (ClinGen Patient Registry) and Patient Registry Partnerships
    - Educational Resources
    - Get Involved
    - Organizing Committee
  - Hands-On Rare Disease Genomic Analysis Workshop
    Lectures and recordings from a virtual workshop April 6 - April 8, 2022
    - Workshop Agenda
    - Introduction
    - GREGoR Collaborations
    - ClinGen Participation
    - Panel Discussion: Experience collaborating with GREGoR and/or ClinGen
    - Overview of Genomic Analysis Resources
    - Sequencing, Alignment, and Variant Callers
    - Hands-on Demonstration: Uploading data to AnVIL
    - seqr Overview and Tutorial
    - Assessing Variants in a Known Gene: Clinical Variant Classification and Use of the ClinGen Variant Curation Interface
    - Assessing Variants in a Novel Gene: The Gene-Disease Validity Assessment Process
    - Data Sharing for Variant Classification and Submission to Matchmaker Exchange
    - Closing Remarks
    - Resources
    - Organizing Committee
  - Laboratory & Clinician Data Sharing Resources
    How to share variant interpretations and supporting observations from your laboratory or clinic with ClinVar.
  - Linked Data Hub
    The ClinGen Linked Data Hub (LDH) facilitates efficient access to collated information such as links and select data from different data sources, which are made available using RESTful APIs. Currently, LDH focuses on linking information about human genes and variants to support ClinGen curation efforts.
  - Part IV Practice Improvement
    Learn about a module towards Part IV Practive Improvement for clinical laboratory geneticists.
  - Pathogenicity Calculator
    Enter ACMG-AMP evidence tags to generate classifications
  - Patient Data Sharing Program
    Learn about the process for patients and patient groups to share data through GenomeConnect and other tools.
  - Patient Registries Data Sharing List
    ClinGen considers the sharing of variant interpretations essential for supporting genomic medicine and a critical part of quality assurance for accurate genetic and genomic testing.
    - Are you part of a patient registry that is interested in sharing data with ClinVar? Click here to learn more.
  - Sidra Medicine Masterclass in Genomic Analysis
    Materials from a two day masterclass December 1-2, 2024.
    - Day 1
    - Day 2
  - Variant Interpretation Discrepancy Resolution Module
    A module towards Part IV Practice Improvement for clinical laboratory geneticists.
    - Download Form
  - Variant Pathogenicity Tools
    Variant Pathogenicity Tools utilized for sequence variant interpretation within a evidence-based framework. The interface is available for public use.

Nothing found.