ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu)

dbSNP: rs1555103986
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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 RCV001172322 SCV001335345 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).
GenomeConnect - Simons Searchlight RCV001265478 SCV001443615 likely pathogenic Complex neurodevelopmental disorder 2017-05-12 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-05-12 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-06-10 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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