ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.4240G>T (p.Ala1414Ser) (rs140744818)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187712 SCV000241309 likely benign not specified 2017-07-26 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 RCV000468027 SCV000562294 likely benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2017-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718608 SCV000849472 likely benign History of neurodevelopmental disorder 2017-03-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Psychiatry Genetics Yale University RCV000084721 SCV000116857 not provided not provided no assertion provided not provided

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