A: The variant NC_000020.11:g.59324388A>C in gene EDN3 is classified as 'Uncertain_significance' for Waardenburg_syndrome_type_4B|Hirschsprung_disease,_susceptibility_to,_4. Molecular consequence: SO:0001583: missense_variant,SO:0001624: 3_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013201,MedGen:C2750457,OMIM:613265,Orphanet:897|MONDO:MONDO:0013384,MedGen:C3150975,OMIM:613712,Orphanet:388. Review status: criteria provided, single submitter.