ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3174C>T (p.Ser1058=) (rs772364390)

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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 RCV000717514 SCV000848367 likely benign History of neurodevelopmental disorder 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000432289 SCV000530047 likely benign not specified 2017-11-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000370687 SCV000377107 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228806 SCV000285637 likely benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2017-05-23 criteria provided, single submitter clinical testing

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