ClinVar Miner

Submissions for variant NM_000836.4(GRIN2D):c.860C>T (p.Ala287Val)

dbSNP: rs2147441889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758860 SCV001997155 uncertain significance not provided 2019-12-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001758860 SCV002011273 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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