ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1569C>T (p.Val523=) (rs148573953)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000344418 SCV000377124 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000429929 SCV000527250 likely benign not specified 2017-06-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000717917 SCV000848778 likely benign History of neurodevelopmental disorder 2017-01-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000866738 SCV001007873 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2019-12-31 criteria provided, single submitter clinical testing

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