A: The variant NC_000019.10:g.38496854_38496861del in gene RYR1 is classified as 'Pathogenic' for Congenital_multicore_myopathy_with_external_ophthalmoplegia|RYR1-related_disorder|Centronuclear_myopathy. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MedGen:CN239331|MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595. Review status: criteria provided, multiple submitters, no conflicts.