ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3028C>T (p.Pro1010Ser) (rs956362869)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693821 SCV000822240 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2019-12-31 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004768 SCV001164248 uncertain significance Epileptic encephalopathy, early infantile, 27 2017-08-11 criteria provided, single submitter clinical testing

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