ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1949A>T (p.Asn650Ile)

dbSNP: rs1131691590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493190 SCV000582440 pathogenic not provided 2020-01-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29365063)

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