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. Author manuscript; available in PMC: 2014 Feb 1.
Published in final edited form as: Circ Cardiovasc Genet. 2013 Feb;6(1):118–131. doi: 10.1161/CIRCGENETICS.110.959387

Figure 7.

Figure 7

Robust segregation analysis can help to determine whether a specific genetic variant is responsible for disease. In this HCM family, genetic testing of our patient (arrow) revealed a variant of uncertain significance (VUS) in the MYH7 gene. The VUS was present in all affected family members (III-2, III-4, III-5, and IV-3) and obligate carriers (II-4) tested, increasing confidence in its pathogenicity. Circles indicate females; squares, males; slash, deceased; ?, genotype unknown; +, VUS present; −, VUS absent. HCM = hypertrophic cardiomyopathy.