ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)

gnomAD frequency: 0.00003  dbSNP: rs104894387
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000018113 SCV000781314 pathogenic Waardenburg syndrome type 4A 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV003236768 SCV003935571 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31028937, 16618617, Kumari_2012_Article, 10964697, 8001158)
OMIM RCV000018112 SCV000038391 risk factor Hirschsprung disease, susceptibility to, 2 1994-12-30 no assertion criteria provided literature only
OMIM RCV000018113 SCV000038392 pathogenic Waardenburg syndrome type 4A 1994-12-30 no assertion criteria provided literature only

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