Sequence Variant Interpretation

The goal of the Sequence Variant Interpretation (SVI) Working Group is to support the refinement and evolution of the ACMG/AMP Interpreting Sequence Variant Guidelines to develop quantitative approaches to variant interpretation.

The Sequence Variant Interpretation Task Team also consults with and supports Expert Panel groups to develop gene- and disease-specific refinements of the ACMG/AMP Interpreting Sequence Variant Guidelines to increase the uniformity and consistency of the Expert Panel recommendations.

The SVI Working Group has representation from the following ClinGen curation groups: Cardiovascular CDWG, Hereditary Hearing Loss CDWG, Inborn Errors of Metabolism CDWG, PTEN Expert Panel, RASopathies Expert Panel, Biocurators WG and the Variant Curation Interface development team.

SVI Approved Expert Panel Specified ACMG/AMP Criteria

SVI approved ACMG/AMP guidelines specified by ClinGen Expert Panels.

SVI General Recommendations for Using ACMG/AMP Criteria

SVI provides general recommendations for using the ACMG/AMP criteria to improve consistency in usage and transparency in classification rationale.

Leadership & Members

Danielle Azzariti, MS, CGC
Project Coordinator