ClinVar Miner

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

gnomAD frequency: 0.00761  dbSNP: rs71532874
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000081342 SCV000113272 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081342 SCV000153535 benign not specified 2016-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham 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 sign ificance because it has been identified in 1.1% (75/7020) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs71532874).
GeneDx RCV000421798 SCV000252503 benign not provided 2019-04-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20981092, 25262649, 12107816, 15605410, 20875904, 25895475, 30245029)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000081342 SCV000297200 benign not specified 2015-11-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081342 SCV000311330 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000342228 SCV000450707 benign Autosomal dominant nonsyndromic hearing loss 6 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445441 SCV000537023 benign Monogenic diabetes 2018-12-07 criteria provided, single submitter research ACMG criteria: BS2 (16 homozygotes in gnomAD), BS1 (allele frequency is 0.01358 of gnomAD European Finish, which means carrier frequency is 0.0018, above the disease frequency of 1/5000 for WFS)= benign; REVEL 0.255 + PP3/6 predictors + BP4/5 predictors= conflicting evidence, not using
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000421798 SCV000605608 benign not provided 2021-10-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000421798 SCV000844885 benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Invitae RCV000421798 SCV001013354 benign not provided 2021-12-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001156285 SCV001317773 benign WFS1-Related Spectrum Disorders 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081342 SCV001953102 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081342 SCV001972770 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000421798 SCV002036980 likely benign not provided no assertion criteria provided clinical testing

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