ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1743C>T (p.Gly581=) (rs377539343)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152681 SCV000202050 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly581Gly in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725029 SCV000333359 uncertain significance not provided 2015-08-10 criteria provided, single submitter clinical testing
Invitae RCV000725029 SCV001071167 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing

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