A: The variant NC_000022.11:g.50524367AG[2] in gene SCO2 is classified as 'Pathogenic/Likely_pathogenic' for Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1|not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.