ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.291G>A (p.Val97=) (rs202223470)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716109 SCV000846943 likely benign History of neurodevelopmental disorder 2016-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
GeneDx RCV000187687 SCV000241284 benign not specified 2014-07-28 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.
Genetic Services Laboratory, University of Chicago RCV000187687 SCV000247535 uncertain significance not specified 2014-08-08 criteria provided, single submitter clinical testing
Invitae RCV000655331 SCV000777261 likely benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2017-10-19 criteria provided, single submitter clinical testing

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