A: The variant NC_000022.11:g.50524395_50524396insTGAGTCACTGCTGCATGCT in gene SCO2 is classified as 'Pathogenic/Likely_pathogenic' for Primary_dilated_cardiomyopathy|Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1|not_provided|Myopia_6. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Insertion. Disease database links: EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561|MedGen:C3661900|MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908. Review status: criteria provided, multiple submitters, no conflicts.