A: The variant NC_000019.10:g.38523927C>T in gene RYR1 is classified as 'Pathogenic' for Central_core_myopathy|not_provided|RYR1-related_disorder. Molecular consequence: SO:0001587: nonsense,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MedGen:C3661900|MedGen:CN239331. Review status: criteria provided, multiple submitters, no conflicts.