For the other 10 unresolved cases, 1 case (JF248) has two DYSF variants (one classified as LP and the other a VUS) and out of disease range DYSF protein expression; however, one of the DYSF variants (c.4794G>T) is a leaky splice site that is associated with out of disease range DYSF protein expression in multiple cases confirmed to have dysferlinopathy and, therefore, this case likely has dysferlinopathy. The gene discussed is DYSF; the disease is neuromuscular disease caused by qualitative or quantitative defects of dysferlin.