Here is a genetic alteration in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Familial Mediterranean fever, autosomal dominant