ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) (rs5352)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222856 SCV000269066 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser395Asn in exon 5 of EDNRB: This variant is not expected to have clinical si gnificance because it has been identified in 1.4% (119/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs5352).
PreventionGenetics,PreventionGenetics RCV000222856 SCV000302327 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356259 SCV000384810 likely benign Hirschsprung Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory of Human Genetics,Universidade de São Paulo RCV000626404 SCV000678739 likely benign Waardenburg syndrome type 2A 2017-03-01 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000222856 SCV000707740 benign not specified 2017-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000222856 SCV000727101 likely benign not specified 2017-09-28 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.
Center for Human Genetics, Inc RCV000659497 SCV000781315 likely benign Waardenburg syndrome type 4A 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000018118 SCV000038397 risk factor Hirschsprung disease 2 1999-04-01 no assertion criteria provided literature only

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