A: The variant NC_000019.10:g.38460519del in gene RYR1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Congenital_multicore_myopathy_with_external_ophthalmoplegia|RYR1-related_disorder|Central_core_myopathy|Myopathy. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|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:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848. Review status: criteria provided, multiple submitters, no conflicts.