ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.125G>C (p.Arg42Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004784676 SCV005396819 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing In silico analysis indicates 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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