A: The variant NC_000020.11:g.59324598del in gene EDN3 is classified as 'Uncertain_significance' for Hirschsprung_Disease,_Dominant|Waardenburg_syndrome. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MedGen:CN239304|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440. Review status: criteria provided, single submitter.