A: The variant NC_000019.10:g.49861768_49861786dup in gene PNKP is classified as 'Likely_benign' for PNKP-related_disorder|not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_12|not_specified. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Duplication. Disease database links: .|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:CN169374. Review status: criteria provided, multiple submitters, no conflicts.