ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile)

dbSNP: rs1949369220
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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 RCV001172354 SCV001335405 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 RCV001265474 SCV001443611 likely pathogenic Complex neurodevelopmental disorder 2017-01-20 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-01-20 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-09-04 by GTR ID of laboratory name 1019. The reporting laboratory might also submit to ClinVar.

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