ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) (rs1806200)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719329 SCV000850195 likely benign History of neurodevelopmental disorder 2016-09-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000335033 SCV000377101 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477584 SCV000562295 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2017-03-16 criteria provided, single submitter clinical testing

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