A: The variant NC_000021.9:g.45990428_45990510del in gene COL6A1 is classified as 'Likely_benign' for COL6A1-related_disorder|Bethlem_myopathy_1A|Ullrich_congenital_muscular_dystrophy_1A. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: .|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840. Review status: criteria provided, single submitter.