A: The variant NC_000022.11:g.42619922C>T in gene CYB5R3 is classified as 'Pathogenic/Likely_pathogenic' for Central_core_myopathy|Deficiency_of_cytochrome-b5_reductase|Hereditary_methemoglobinemia|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MONDO:MONDO:0009606,MedGen:C0268193,OMIM:250800,Orphanet:621|MONDO:MONDO:0018963,MedGen:C0272087,Orphanet:621|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.