A: The variant NC_000020.11:g.59301500AGACTGTGGCTGGCCCTGGCGAGG[3] in gene EDN3 is classified as 'Uncertain_significance' for not_provided|EDN3-related_disorder|Abnormal_rectum_morphology|Megacolon|Hirschsprung_disease,_susceptibility_to,_4|Waardenburg_syndrome_type_4B. Molecular consequence: SO:0001821: inframe_insertion. Variant type: Microsatellite. Disease database links: MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0002034,MedGen:C5399764|Human_Phenotype_Ontology:HP:6000852,MONDO:MONDO:0001273,MedGen:C0025160|MONDO:MONDO:0013384,MedGen:C3150975,OMIM:613712,Orphanet:388|MONDO:MONDO:0013201,MedGen:C2750457,OMIM:613265,Orphanet:897. Review status: criteria provided, multiple submitters, no conflicts.