How are genetic variants classified?
Last modified: July 21, 2022

Variants are classified according to the following scoring system based on the ACMG/AMP guidelines: pathogenic (P), likely pathogenic (LP), variants of unknown significance (VUS), likely benign (LB), and benign (B).

EVIDENCE classifies variants by evaluating variant characteristics, such as frequency,variant type, and in vitro functional effect, as well as the level of relevance to the clinically approved genotype-phenotype association. Although the ACMG/AMP guidelines are widely accepted as a general standard for variant interpretation, their differential application among laboratories always results in inconsistent outcomes, which are sometimes conflicting.

For better, efficient, and reliable outcomes, 3billion reshaped the 28 criteria of the ACMG/AMP guidelines using more specific and clearer definitions with strength modification and narration of interpreters’ professional judgments based on the original ACMG/AMP guidelines.