ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) (rs104894387)

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Total submissions: 3
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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
OMIM RCV000018112 SCV000038391 risk factor Hirschsprung disease 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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