A: The variant NC_000020.11:g.59301650C>A in gene EDN3 is classified as 'Conflicting_classifications_of_pathogenicity' for Waardenburg_syndrome_type_4B|Hirschsprung_disease,_susceptibility_to,_4|EDN3-related_disorder. Molecular consequence: SO:0001583: missense_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, conflicting classifications.