Figure 1.

Classification scoring thresholds and evidence categories. (a) Point score thresholds for pathogenic (P), likely pathogenic, variant of uncertain significance, likely benign, and benign (B) classifications. Pathogenic and benign evidence is scored separately. Evidence in both directions can suggest a non-Mendelian variant. (b) Five evidence categories in the order in which they are evaluated, and with the point value of select criteria indicated. Clinical criteria include population data and clinical findings. Functional criteria include sequence observations, molecular studies, and indirect and computational data. ExAC, Exome Aggregation Consortium.