ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)

dbSNP: rs1565478152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679999 SCV000807437 uncertain significance Intellectual disability, autosomal dominant 6 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old male with motor delays, poor articulation, absence seizures
Institute of Human Genetics, University of Leipzig Medical Center RCV000679999 SCV001335395 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).

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