ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.649C>T (p.Gln217Ter)

dbSNP: rs1555133111
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Total submissions: 1
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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 RCV001172344 SCV001335386 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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