ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) (rs1801710)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216329 SCV000269070 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly147Ser in exon 2 of EDNRB: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (76/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs1801710).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224294 SCV000281502 uncertain significance not provided 2015-02-10 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
PreventionGenetics,PreventionGenetics RCV000216329 SCV000302322 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000018117 SCV000384821 likely benign Hirschsprung disease 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000216329 SCV000700627 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000216329 SCV000730643 likely benign not specified 2017-10-05 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.
Invitae RCV000224294 SCV001113529 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224294 SCV001143836 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224294 SCV001149062 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
OMIM RCV000018117 SCV000038396 risk factor Hirschsprung disease 2 1998-08-01 no assertion criteria provided literature only

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