ACMG/AMP/CAP/ClinGen DRAFT Standards for Sequence Variant Classification v4.0
Wednesday, November 15, 2023
4:00 PM – 4:50 PM MST
Steven Harrison and Heidi Rehm will provide an overview of the draft Standards for Sequence Variant Classification version 4.0, set forth by a joint committee of ACMG, AMP, CAP and ClinGen. The session will include an overview of changes between versions 3.0 and 4.0. Presenters will speak to reasoning for updates, review draft specifications and supporting materials, and discuss implications for clinical laboratories that classify sequence variants to transition to version 4.0. Attendees will be able to provide feedback and volunteer to test standards. The discussion will include a review of a publication assessing rates of variants of uncertain significance in NGS-based testing.