ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1769A>T (p.Glu590Val)

dbSNP: rs2104335303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769141 SCV002003249 uncertain significance not provided 2020-09-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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