The following?are documents and announcements related to?Variant Pathogenicity Curation.

  • ClinGen Variant Curation Training, Level 2 (VCEP-specific)
    Training Materials - June 19, 2019 - Level 2 variant curation training aims to educate the biocurator on the specific ACMG/AMP guideline specifications and variant assessment procedures outlined by their assigned variant curation expert panel (VCEP).
  • FDA Recognizes ClinGen Assertions in ClinVar - Frequently Asked Questions
    News - February 1, 2019 - The ClinGen expert curated variants are available for unrestricted use in the community via ClinVar, an archive which is funded and maintained by NIH’s National Center for Biotechnology Information, part of the National Library of Medicine.
  • ClinGen Variant Curation Training, Level 1
    Training Materials - January 17, 2019 - Level 1 variant curation training aims to familiarize variant biocurators with general variant assessment information and ClinGen procedures/resources.
  • BA1 Exception List
    Supporting Documents - July 30, 2018
  • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
    Supporting Documents - May 17, 2017 - The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.
  • ClinVar Community Call
    Announcements - January 22, 2016 - The ClinGen Community ClinVar call takes place on the 4th Friday of each month and brings together members of ClinGen, ClinVar and any interested user of ClinVar to discuss topics about using or submitting data to ClinVar.