Fig. 1
From: Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Distribution of LP/P gene by ClinGen HCM Gene Disease Association. Bar chart demonstrates the distribution of LP/P gene by ClinGen HCM Gene Disease Association. The Y axis indicates percentage of all diagnostic variants (n = 373) and the X axis indicates the ClinGen disease association. LP for likely pathogenic, P for pathogenic and HCM for hypertrophic cardiomyopathy. Genes included in sections: Definitive: ACTC1, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1, MYBPC3, PLN; Definitive syndromic: DES, FHL1, FLNC, GLA, LAMP2, PRKAG2, RAF1, TTR; Moderate: JPH2; Limited: TTN, RYR2; Not evaluated: CPT2, DSG2, HRAS, JUP, LMNA, MAP2K1, NF1, SCN5A, SHOC2, TRPM4