Faculty Opinions recommendation of 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.

Abstract

This consensus recommendation provides guidance for the interpretation of sequence variants. The authors describe a process for classifying variants into five categories: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’. This Recommendation is of an article referenced in an F1000 Faculty Review also written by Cristina Has.