A: The variant NC_000019.10:g.50413492G>A in gene POLD1 is classified as 'Uncertain_significance' for Mandibular_hypoplasia-deafness-progeroid_syndrome. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014157,MedGen:C3715192,OMIM:615381,Orphanet:363649. Review status: criteria provided, single submitter.