ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.684C>G (p.Arg228=)

gnomAD frequency: 0.68223  dbSNP: rs1801213
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000038665 SCV000062343 benign not specified 2012-02-28 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000038665 SCV000231711 benign not specified 2014-10-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038665 SCV000311337 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000261705 SCV000450577 benign WFS1-Related Spectrum Disorders 2018-01-12 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.
Illumina Laboratory Services,Illumina RCV000319343 SCV000450578 benign Autosomal dominant nonsyndromic hearing loss 6 2018-01-12 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.
Invitae RCV001513864 SCV001721554 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001513864 SCV001868233 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000038665 SCV000153537 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000038665 SCV001742400 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038665 SCV001957205 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038665 SCV001975576 benign not specified no assertion criteria provided clinical testing

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