ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.41A>G (p.Gln14Arg)

gnomAD frequency: 0.00028  dbSNP: rs142651446
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Total submissions: 8
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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 RCV000219272 SCV000269958 benign not specified 2015-05-05 criteria provided, single submitter clinical testing p.Gln14Arg in exon 2 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 2.5% (28/1128) of East Asian chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs142651446).
PreventionGenetics,PreventionGenetics RCV000219272 SCV000311333 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000394887 SCV000450545 likely 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV000299874 SCV000450546 likely 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000946363 SCV000527009 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17492394, 27013921, 15234338)
Invitae RCV000946363 SCV001092492 benign not provided 2021-12-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000946363 SCV002036379 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000946363 SCV002038242 likely benign not provided no assertion criteria provided clinical testing

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