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

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.