A: The variant NC_000020.11:g.59301619dup in gene EDN3 is classified as 'risk_factor' for Hirschsprung_disease,_susceptibility_to,_4. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013384,MedGen:C3150975,OMIM:613712,Orphanet:388. Review status: no assertion criteria provided.