The variant NM_001035.3(RYR2):c.14302G>A in sample 4 was previously discussed in the literature [12,13,14] and classified as a VUS specifically involved in cardiac disease, such as cardiomyopathy [13] and catecholaminergic polymorphic ventricular tachycardia (CPVT) [12,13]. Here, RYR2 is linked to cardiomyopathy.