Gene Curation

Visit the Gene-Disease Clinical Validity Curation page to find the most up-to-date information about our Framework, Standard Operating Orocedures (SOP), and Curation Summaries.


  1. Establish a framework for assessing the evidence necessary to determine if a gene causes a particular disease (clinical validity).
  2. Develop standards for gene curation, and define the types and amounts of evidence necessary to support an association between a gene and a particular disease.
  3. Provide guidance and specifications to the ClinGen application development team for the creation of an interface to support gene curation activities.
  4. Oversee ClinGen gene curation activities, and support the needs of the Clinical Domain Working Groups as they curate domain-specific gene-disease pairs.


Jonathan Berg, MD, PhD

Christa Lese Martin, PhD, FACMG


Please contact a coordinator if you have questions.

Laura Milko, PhD

Erin Rooney Riggs, MS, CGC

E. Andy Rivera M.


28 members contribute to the Gene Curation Working Grouping. All Members