A: The variant NC_000021.9:g.46260897_46260898del in gene MCM3AP is classified as 'Pathogenic' for Inborn_genetic_diseases|MCM3AP-related_disorder|not_provided|Peripheral_neuropathy,_autosomal_recessive,_with_or_without_impaired_intellectual_development. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0029131,MedGen:C4748283,OMIM:618124. Review status: criteria provided, multiple submitters, no conflicts.