Documents & Announcements

The ClinGen General Sequence Variant Curation standard operating procedure (SOP) is designed to provide guidance on variant classification using ClinGen approved processes and tools. Standardized assertion criteria to classify clinical sequence variants associated with Mendelian disorders into a five-tier nomenclature system were developed in “Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology” (ACMG/AMP) and include pathogenic (P), likely pathogenic (LP), uncertain significance (VUS), likely benign (LB), and benign (B). This SOP is intended to guide variant curators through the process of curating and scoring evidence for the ACMG/AMP assertion criteria (population data, computational and predictive analysis, functional criteria, and allelic and co-segregation data) using the ClinGen Variant Curation Interface (VCI).

View the current version of the Variant Curation Standard Operating Procedure, version 3: Variant Curation Standard Operating Procedure, Version 3