A: The variant NC_000019.10:g.50406406G>C in gene POLD1 is classified as 'Uncertain_significance' for Polymerase_proofreading-related_adenomatous_polyposis. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018653,MedGen:C0130294,Orphanet:447877. Review status: criteria provided, single submitter.