The variant affects gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1