ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2611G>A (p.Val871Met) (rs71532874)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000081342 SCV000605608 benign not specified 2016-08-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000421798 SCV000844885 benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421798 SCV000511248 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000081342 SCV000297200 benign not specified 2015-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081342 SCV000113272 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000081342 SCV000252503 likely benign not specified 2017-09-26 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.
Genetic Services Laboratory, University of Chicago RCV000081342 SCV000153535 benign not specified 2016-01-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342228 SCV000450707 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081342 SCV000202083 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val871Met in Exon 08 of WFS1: This variant is not expected to have clinical significance because it has been identified in 1.1% (75/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs71532874).
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445441 SCV000537023 likely benign Monogenic diabetes 2017-09-29 criteria provided, single submitter research ACMG Criteria:PP3 (6 predictors), BP4 (5 predictors), BS2( 8 homozygotes in ExAC), BP6( Emory and Partners classified it as benign, and GeneDx and UnivChicago classified it as likely benign)
PreventionGenetics RCV000081342 SCV000311330 benign not specified criteria provided, single submitter clinical testing

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