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. 2023 Jan 12;6(3):e202201673. doi: 10.26508/lsa.202201673

Figure 3. The ACMG secondary findings and primary findings.

Figure 3.

Frequency of (gene)-disease pairs. The ACMG, the American College of Medical Genetics and Genomics; BTD, biotinidase deficiency; WD, Wilson disease; PD, Pompe disease; DCM, dilated cardiomyopathy; RB, retinoblastoma; PJS, Peutz-Jeghers syndrome; LS, Lynch syndrome; HBOC, hereditary breast and ovarian cancer; MS, Marfan syndrome; FH, familial hypercholesterolemia; HCM, hypertrophic cardiomyopathy; MH, malignant hyperthermia; HBC, hereditary breast cancer; ARVC, arrhythmogenic right ventricular cardiomyopathy; LQTS, long QT syndrome.