ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2257G>A (p.Glu753Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004769325 SCV005379070 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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