Variant Curation

Documents Tools Membership

The Variant Curation Working Group serves to:

  • Review and approve variant curation resources and policies and procedures related to ClinGen’s variant curation activities

  • Serve as invested users for ClinGen’s Variant Curation tools 

Chairs
Marina DiStefano, PhD, FACMG
Sharon E. Plon, MD, PhD
Heidi Rehm, PhD
Coordinators
Please contact a coordinator if you have questions.
Hannah Dziadzio, BA
[email protected]

Documents

Tools & Resources

  • ClinGen Variant Curation Expert Panel Procedures and Resources
    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.

    About
  • Criteria Specification Registry (CSpec)
    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.

    About Website

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Coordinators

Past Members