ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1321G>A (p.Val441Met) (rs150894674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155340 SCV000205026 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val441Met in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 0.4% (14/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs150894674).
Invitae RCV001517049 SCV001725455 benign not provided 2020-10-20 criteria provided, single submitter clinical testing

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