A: The variant NC_000019.10:g.17339049_17339052del in gene GTPBP3 is classified as 'Pathogenic/Likely_pathogenic' for GTPBP3-related_disorder|not_provided|Combined_oxidative_phosphorylation_defect_type_23. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: .|MedGen:C3661900|MONDO:MONDO:0014525,MedGen:C5567743,OMIM:616198,Orphanet:444013. Review status: criteria provided, multiple submitters, no conflicts.