A: The variant NC_000022.11:g.33304347C>T in gene LARGE1 is classified as 'Uncertain_significance' for Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899. Review status: criteria provided, single submitter.