A: The variant NC_000021.9:g.45997664A>G in gene COL6A1 is classified as 'Benign' for Ullrich_congenital_muscular_dystrophy_1A|not_provided|Bethlem_myopathy_1A|not_specified. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:CN169374. Review status: criteria provided, multiple submitters, no conflicts.