ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3807A>T (p.Pro1269=) (rs78765966)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125329 SCV000168779 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.
Illumina Clinical Services Laboratory,Illumina RCV000300694 SCV000377103 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000558047 SCV000659538 likely benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2017-12-18 criteria provided, single submitter clinical testing

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