Diagnostic yield and proportion of novel variants by disease class. (A) Diagnostic yield of reported variants for 2396 index patients for each of the 5 disease classes: thrombotic, platelet count, platelet function, coagulation, and unexplained bleeding. For patients with >1 reported variant, the most pathogenic variant was used in this analysis (n = number of index patients). (B) Proportion of reported variants that were novel or known for patients in each disease class (n = number of variants).