A: The variant NC_000019.10:g.38451846T>C in gene RYR1 is classified as 'Likely_pathogenic' for not_provided|Central_core_myopathy|Congenital_myopathy_with_fiber_type_disproportion|RYR1-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MedGen:CN239331. Review status: criteria provided, single submitter.