Geisinger
United States of America-
Seth Atam
-
Gary Bellus, MD, PhD
-
Tracy Brandt, Ph.D., FACMG
-
Adam Buchanan, MS, MPH, CGC
-
David Carey, PhD
-
Julia Ciesielka
-
Caitlin Cooney, MS, CGC
-
Ineke Cordova, BA
-
Elizabeth Gavrilov, BA
-
Haluk Kavus, MD
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Melissa Kelly MS, CGC
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Christa Lese Martin, PhD, FACMG
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Gabrielle Millikin, BS
-
Uyenlinh Mirshahi, PhD
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Andres Moreno De Luca, MD
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Alexis Morgan
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Tristan Nelson
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Erin Rooney Riggs, MS, CGC
-
Juliann Savatt, MS, CGC
-
Hermela Shimelis, PhD
-
Bryanna VanHoute, BA
-
Phillip Weller
-
Marc S Williams, MD
ClinGen Members
Working Groups
- Actionability
- Adult Actionability Working Group
- Biocurator
- Cardiovascular CDWG
- ClinGen Community Curation (C3)
- Clinical Domain Working Groups
- Copy Number Variant Interpretation Guidelines
- Curated Disease Entity
- Data Access, Protection, and Confidentiality
- Data Platform
- Dosage Sensitivity Curation
- Education, Coordination and Training
- Gene Curation
- General Gene Dosage Sensitivity Subgroup
- Hereditary Cancer CDWG
- Hereditary Cancer Dosage Sensitivity Subgroup
- Low Penetrance/Risk Allele
- Lumping and Splitting
- Multigenic Disease Taskforce
- Neurodevelopmental Disorders CDWG
- Partnership
- Pediatric Actionability Working Group
- Polygenic Risk Score (PRS) Clinical Utility Working Group
- Population Screening WG
- Pseudodeficiency Working Group
- Recurrent CNVs Dosage Sensitivity Subgroup
- Solid Tumor Taskforce
- Steering Committee
- Variant Curation
Expert Panels
- Brain Malformations Gene Curation Expert Panel
- Breast/Ovarian Cancer Gene Curation Expert Panel
- Cardiomyopathy Variant Curation Expert Panel
- Cerebral Palsy Gene Curation Expert Panel
- Desmosomal Cardiomyopathy Variant Curation Expert Panel
- Epilepsy Gene Curation Expert Panel
- General Gene Curation Expert Panel
- GRIN Disorders Variant Curation Expert Panel
- Intellectual Disability and Autism Gene Curation Expert Panel
- Monogenic Diabetes Variant Curation Expert Panel
- Myeloid Malignancy Variant Curation Expert Panel
- Prenatal Gene Curation Expert Panel
- Rett and Angelman-like Disorders Variant Curation Expert Panel
- Skeletal Disorders Gene Curation Expert Panel