ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3890A>G (p.Lys1297Arg)

dbSNP: rs916745822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994855 SCV001148649 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000994855 SCV001992817 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing 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

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