A: The variant NC_000019.10:g.38565347_38565366del in gene RYR1 is classified as 'Pathogenic' for Central_core_myopathy|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-related_disorder|RYR1-related_myopathy|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MedGen:C2674259|MedGen:CN239331|MONDO:MONDO:0100150,MedGen:CN305348|MedGen:C3661900. Review status: reviewed by expert panel.