A: The variant NC_000022.11:g.50524224_50524233dup in gene SCO2 is classified as 'Pathogenic' for Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561. Review status: no assertion criteria provided.