ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala)

dbSNP: rs368958317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550624 SCV001770979 uncertain significance not provided 2019-01-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genetic Services Laboratory, University of Chicago RCV001815037 SCV002061988 uncertain significance not specified 2018-02-27 criteria provided, single submitter clinical testing

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