A: The variant NC_000019.10:g.49862717_49862737del in gene PNKP is classified as 'Uncertain_significance' for Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_12. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722. Review status: criteria provided, multiple submitters, no conflicts.