A: The variant NC_000020.11:g.59322394dup in gene EDN3 is classified as 'Benign/Likely_benign' for not_provided|not_specified|Waardenburg_syndrome_type_4B|EDN3-related_disorder|Aganglionic_megacolon|Congenital_central_hypoventilation|Hirschsprung_Disease,_Dominant. Variant type: Duplication. Disease database links: MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013201,MedGen:C2750457,OMIM:613265,Orphanet:897|.|Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388|MONDO:MONDO:0800031,MedGen:C1275808,OMIM:PS209880,Orphanet:661,Orphanet:99803|MedGen:CN239304. Review status: criteria provided, multiple submitters, no conflicts.