Figure 2. A diseaseome-wide investigation of pathogenicity assertions in ClinVar.

(a) Distribution of 160,487 pathogenicity assertions across 132,584 distinct variants. 86% of variants had exactly one assertion. (b) Truncated distribution of pathogenicity assertions by disease. (c) Clinical significance values for assertions in ClinVar. 85,455 (53.2%) of the 160,487 total assertions were either “untested” or “unknown.” “Pathogenic” assertions were the second largest overall group.