ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)

gnomAD frequency: 0.00164  dbSNP: rs11570351
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214032 SCV000270180 likely benign not specified 2015-10-07 criteria provided, single submitter clinical testing p.Ala210Thr in exon 4 of EDN3: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (49/10242) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; rs 11570351).
PreventionGenetics, part of Exact Sciences RCV000214032 SCV000302320 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000214032 SCV000854888 likely benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000907433 SCV001052139 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Mendelics RCV000990324 SCV001141264 likely benign Waardenburg syndrome type 4B 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000907433 SCV001819172 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Splice predictors are inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Observed in a patient with Hirschsprung disease in published literaure; however, this variant was also observed in the unaffected mother of this individual (Bidaud et al., 1997); This variant is associated with the following publications: (PMID: 9359047, 9359036, 9587491, 22995991)
OMIM RCV000018127 SCV000038406 risk factor Hirschsprung disease, susceptibility to, 4 1997-07-01 no assertion criteria provided literature only

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