ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)

dbSNP: rs867553974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171570 SCV001334361 likely pathogenic not provided 2019-04-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001172349 SCV001335398 likely pathogenic Intellectual disability, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Centogene AG - the Rare Disease Company RCV001809986 SCV002059248 likely pathogenic Developmental and epileptic encephalopathy, 27 2018-09-19 criteria provided, single submitter clinical testing

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