ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2433G>A (p.Lys811=)

gnomAD frequency: 0.57941  dbSNP: rs1046314
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Total submissions: 12
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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 RCV000038659 SCV000062337 benign not specified 2012-02-28 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000038659 SCV000113269 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038659 SCV000311326 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000292566 SCV000450683 benign WFS1-Related Spectrum Disorders 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services,Illumina RCV000352148 SCV000450684 benign Autosomal dominant nonsyndromic hearing loss 6 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001523402 SCV000884906 benign not provided 2022-02-03 criteria provided, single submitter clinical testing
Invitae RCV001523402 SCV001733098 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001523402 SCV001941483 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12107816)
Genetic Services Laboratory,University of Chicago RCV000038659 SCV000153532 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 RCV000038659 SCV001742691 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038659 SCV001954736 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038659 SCV001966929 benign not specified no assertion criteria provided clinical testing

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