ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2430C>A (p.Ser810Arg)

dbSNP: rs864309560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203067 SCV000257727 pathogenic not provided 2015-06-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001172328 SCV001335354 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).

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