Figure 3

Result stratificatiion by variant type and demographics. (a) Comparison of the MYBPC3 gene versus LAMP2 versus all other contributing genes (ACTC1, ACTN2, CSRP3, GLA, MYH7, MYL2, MYL3, MYOZ2, NEXN, PLN, PRKAG2, TINNI3, TNNC1, TNNT2, TPM1, and TTR) in terms of the types of pathogenic and likely pathogenic variants identified in probands. Nontruncating variants include missense variants (amino acid substitutions) and in-frame amino acid insertions and deletions. Truncating variants include nonsense, frameshift, and canonical splice variants (±1,2). (b) Distribution of positive, negative, and inconclusive results in adult and pediatric age groups. Thirty-seven cases were excluded because of unavailable age. (c) Breakdown of detection rates based on reported family history. (d) Distribution of positive, negative, and inconclusive results in males as compared with females. Sixty-one cases were excluded because of unavailable sex. P values for all comparisons are noted in Supplementary Table S1 online. HCM, Hypertrophic cardiomyopathy; SCD, sudden cardiac death.