Clinical Domains

One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants. These clinical domain working groups consist of expert clinicians, clinical laboratory diagnosticians, and researchers who will enlist representatives from community-organized efforts to implement standardized protocols for gene or sequence variant specific annotations of genes related to the specific disease domain.

Interested in becoming an Expert Panel? Learn more about the process here.

Sub Groups

Initiatives & Updates

  • Cardiovascular Abstracts and Publications

    TitleAuthorsMeetingDateCityType of PresentationLack 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. Colleen Caleshu, Melissa Kelly, Ana Morales, Euan Ashley, Ray Hershberger, Birgit FunkeAmerican Society of Human GeneticsOctober, 2015Baltimore, MDTBD
  • In-Person Meetings

    Additional information about In-Person Meetings available by clicking the link above.

Leadership & Members

Chairs
Jonathan Berg, MD, PhD
Principal Investigator, “A Knowledge Base for Clinically Relevant Genes and Variants" (U01 Grant)
Sharon E. Plon, MD, PhD
2014 ClinGen Steering Committee Chair. Principal Investigator, U01 HG007436 grant
Coordinators
Members