Sequence Variant Interpretation

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

Documents Tools Membership

The Sequence Variant Interpretation WG 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 WG has representation from the Biocurators WG, CNV Interpretation WG and Variant Curation Interface development team and all 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.

Chairs

Coordinators
Please contact a coordinator if you have questions.

Documents

Tools & Resources

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.