A: The variant NC_000019.10:g.49861769_49861785dup in gene PNKP is classified as 'Uncertain_significance' for Developmental_and_epileptic_encephalopathy,_12|not_specified|PNKP-related_disorder. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:CN169374|.. Review status: criteria provided, multiple submitters, no conflicts.