P593: Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification

Genetics in Medicine Open 2026 Open access

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Authors: Leslie Biesecker, Heidi Rehm, Ahmad Abou Tayoun, Jonathan Berg, David Bick, Alicia Byrne, Elizabeth Chao, Julie Gastier-Foster, Izabela Karbassi, A. M. Moyer, Anne O'Donnell-Luria, Sharon E. Plon
+3 more Neethu Shah, Lisa M. Vincent, Nicola Whiffen
DOI: 10.1016/j.gimo.2026.104084
Cited by: 1

Abstract

The American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), College of American Pathologists (CAP) and Clinical Genome Resource (ClinGen), are working on updated standards for sequence variant classification (SVC), referred to as SVC v4.0. SVC v4.0 uses a Bayesian, points-based system and flow diagrams that guide curators through evidence application. To evaluate the validity and usability of the draft standards, we launched a pilot involving clinical laboratories with expertise in variant classification.

Fields of Study & Subjects

Genomics and Rare Diseases Genetic Associations and Epidemiology BRCA gene mutations in cancer

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
104084–104084
Publication date
1 January 2026
Language
EN