Figure 4.

Variant-specific estimates of penetrance for the 316 recurrently observed rare variants in CM-associated genes from group 2

An interactive widget is available for browsing the individual variants in this figure (see Figure S15). The variants depicted (HCM n = 257, A; DCM n = 59, B) were identified multiple times in affected individuals and population reference datasets and penetrance could therefore be estimated. Presented is the estimated penetrance and 95% confidence interval. The x axis denotes the number of times the variant was observed in each case cohort. AC, allele count; B/LB, benign/likely benign; VUS, variant of uncertain significance; LP, likely pathogenic; P, pathogenic.