A: The variant NC_000021.9:g.45988512_45989657delinsTCCCTCCCCATTTCC in gene COL6A1 is classified as 'Pathogenic' for ULLRICH_CONGENITAL_MUSCULAR_DYSTROPHY_1A,_AUTOSOMAL_DOMINANT. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant. Variant type: Indel. Disease database links: .. Review status: no assertion criteria provided.