ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) (rs1057519004)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500367 SCV000595084 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
Mendelics RCV000988791 SCV001138653 pathogenic Mental retardation, autosomal dominant 6 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics,CHU RENNES RCV000414971 SCV000493101 likely pathogenic intellectual deficiency no assertion criteria provided clinical testing

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