ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) (rs11570255)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222596 SCV000730440 likely benign not specified 2017-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000382674 SCV000434864 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222596 SCV000269063 benign not specified 2016-10-06 criteria provided, single submitter clinical testing p.Ala17Thr in exon 1 of EDN3: This variant is not expected to have clinical sign ificance because it has been identified in 2.4% (185/7748) of East Asian chromos omes including 4 homozygotes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs11570255).
OMIM RCV000018126 SCV000038405 risk factor Hirschsprung disease 4 1997-07-01 no assertion criteria provided literature only
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000018126 SCV000267299 uncertain significance Hirschsprung disease 4 2016-03-18 criteria provided, single submitter reference population

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