A: The variant NC_000021.9:g.46114704_46116035del in gene COL6A2 is classified as 'Pathogenic' for Ullrich_congenital_muscular_dystrophy_1B. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727. Review status: no assertion criteria provided.