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. 2018 Dec 11;21(7):1576–1584. doi: 10.1038/s41436-018-0375-z

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© The Author(s) 2018

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Fig. 3 — Proportions of cases with different classes of reportable variants. Confirmed genes: proportion of cases with a reportable variant in confirmed hypertrophic cardiomyopathy (HCM) genes (n=16). Comparison data from Oxford Medical Genetics Laboratory clinical HCM 16-gene panel from HCM cases (n=1082) referred for genetic testing from period January 2014 to September 2015. Candidate genes: proportion of cases with a reportable variant in the genes tested in this study in 240 HCM cases in whom no likely pathogenic or pathogenic variant was detected in confirmed genes. *N=50 variants detected in the TTN gene are not shown (TTN OR was 0.9 [95%CI 0.68–1.18]. TTN VUS are found in an additional 20% of cases). Note that for the 16 confirmed genes, case excess data indicate that the majority of VUS will in fact be disease causing, whereas the absence of any excess in cases in the 50 candidate genes indicates that the vast majority of VUS will not be disease causing. CI confidence interval, OR odds ratio, VUS variants of uncertain significance