Fig. 2: Outcomes of expert variant interpretation.
From: Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
(a) Resolution of variants with different conflict types into pathogenic (P), likely pathogenic (LP), variant of uncertain significance (VUS), likely benign (LB), or benign (B) by the ClinGen HL-EP. y-axis represents the number of variants; x-axis represents the conflict type in ClinVar. “Single” and “multi” refer to single and multiple submitters in ClinVar, respectively. (b) Final classifications of all variants curated by the Hearing Loss VCEP (N = 157).
