Figure 1: Effect of adjusted allele frequency criteria on variants from ClinVar.
From: ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
Variants with either concordant or discrepant classifications were assessed for their frequency in the general population. An additional 32% of variants met the RAS Expert Panel (EP) adjusted frequency threshold for BA1 versus the standard American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) BA1 threshold. One variant met the RAS EP adjusted frequency for BS1. Data points are colored by the ClinVar classification or discrepancy category of the variant. (Ben, benign; LBen, likely benign; LPath, likely pathogenic; Path, pathogenic; VUS, variant of uncertain significance).
