ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693821 SCV000822240 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-02-03 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004768 SCV001164248 uncertain significance Developmental and epileptic encephalopathy, 27 2017-08-11 criteria provided, single submitter clinical testing

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