ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.173C>T (p.Ala58Val) (rs369671890)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602626 SCV000730497 likely benign not specified 2017-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730495 SCV000858237 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV000730495 SCV001593366 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing

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