ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) (rs11570351)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics RCV000214032 SCV000302320 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214032 SCV000854888 likely benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000907433 SCV001052139 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990324 SCV001141264 likely benign Waardenburg syndrome type 4B 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000018127 SCV000038406 risk factor Hirschsprung disease 4 1997-07-01 no assertion criteria provided literature only

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