ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1367G>A (p.Arg456His) (rs1801208)

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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,Partners HealthCare Personalized Medicine RCV000038638 SCV000062316 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Arg456His in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 5.0% (352/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs1801208).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000038638 SCV000113261 benign not specified 2013-10-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000038638 SCV000153523 benign not specified 2013-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038638 SCV000311309 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363867 SCV000450616 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.
Illumina Clinical Services Laboratory,Illumina RCV000269758 SCV000450617 likely benign Autosomal dominant nonsyndromic deafness 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282559 SCV000884907 benign none provided 2020-06-19 criteria provided, single submitter clinical testing
Invitae RCV001523400 SCV001733096 benign not provided 2020-11-16 criteria provided, single submitter clinical testing

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