A: The variant NC_000022.11:g.33283233T>A in gene LARGE1 is classified as 'Uncertain_significance' for Muscular_dystrophy-dystroglycanopathy_type_B6. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894. Review status: criteria provided, single submitter.