ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.228C>T (p.Thr76=) (rs77299791)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125319 SCV000168765 benign not specified 2014-02-28 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.
Invitae RCV001079626 SCV000562281 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2020-11-17 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000604796 SCV000745555 likely benign Mental retardation, autosomal dominant 6 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718198 SCV000849060 likely benign History of neurodevelopmental disorder 2017-02-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000476684 SCV001144115 benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604796 SCV000733146 likely benign Mental retardation, autosomal dominant 6 no assertion criteria provided clinical testing

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