Helpful genomics tools & resources for the community.

ClinGen Member Resources

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.

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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.

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ClinGen's Curation Interfaces

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.

Curations Interface
Variant Pathogenicity Tools

Variant Pathogenicity Tools utilized for sequence variant interpretation within a evidence-based framework. The interface is available for public use.

Curations Interface
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.

Curations
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.

Curations Interface

Additional Curation Resources

Allele Registry

Provides unique allele identifiers

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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.

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ClinVar Miner

Tool for exploring ClinVar data at different levels of granularity

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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.

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Evidence Repository

Expert curated interpretations for variants' pathogenicity.

Curations
GenCC Database

The GenCC Database aggregates information pertaining to the validity of gene-disease relationships submitted by GenCC member organizations.

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Genomic Websites & OpenInfoButton Resources

A comprehensive list of genomics resources outside of ClinGen and information about how to utilize Open InfoButton.

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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.

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Pathogenicity Calculator

Enter ACMG-AMP evidence tags to generate classifications

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Training & Education

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.

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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.

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ClinGen Curation Modules

These modules are intended to provide learners with educational credit for participating in ClinGen curation activities.

Clinical Genomics Careers Panel Series

Recordings from a multi-part, virtual panel series on various careers in genomics.

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ClinGen Virtual Retreat 2021

Lectures and recordings from a two-day virtual workshop June 24 to June 25, 2021.

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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).

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H3Africa Rare Disease Working Group and ClinGen Workshop

Lectures and recordings from a three-day virtual workshop February 3 to February 5, 2021.

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Hands-On Rare Disease Genomic Analysis Workshop

Lectures and recordings from a virtual workshop April 6 - April 8, 2022

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Part IV Practice Improvement

Learn about a module towards Part IV Practive Improvement for clinical laboratory geneticists.

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Sidra Medicine Masterclass in Genomic Analysis

Materials from a two day masterclass December 1-2, 2024.

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For Laboratories & Clinicians

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.

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Clinical Broad Data Sharing Consent Resources

Consent template for broad data sharing

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ClinGen Curation Modules

These modules are intended to provide learners with educational credit for participating in ClinGen curation activities.

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.

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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.

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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

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Laboratory & Clinician Data Sharing Resources

How to share variant interpretations and supporting observations from your laboratory or clinic with ClinVar.

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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.

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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.

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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.

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For Patients & Groups

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.

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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.

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Patient Data Sharing Program

Learn about the process for patients and patient groups to share data through GenomeConnect and other tools.

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News & Media

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.

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ClinGen YouTube Channel

Where you can stay up to date with webinars, presentations, training videos, and other video resources developed or shared by ClinGen.

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ClinGen on LinkedIn

ClinGen shares news and updates on LinkedIn, make sure to follow.

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