A: The variant NC_000021.9:g.46125513G>T in gene COL6A2 is classified as 'Uncertain_significance' for Collagen_6-related_myopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0100225,MedGen:CN117976. Review status: criteria provided, single submitter.