A: The variant NC_000019.10:g.38459316dup in gene RYR1 is classified as 'Likely_pathogenic' for Congenital_myopathy_with_fiber_type_disproportion. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020. Review status: criteria provided, single submitter.