ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr)

dbSNP: rs397514555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000032862 SCV001335396 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).
OMIM RCV000032862 SCV000056631 pathogenic Intellectual disability, autosomal dominant 6 2012-12-21 no assertion criteria provided literature only

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