ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)

dbSNP: rs1445802934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260638 SCV001437730 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274166 SCV002559168 pathogenic Landau-Kleffner syndrome criteria provided, single submitter clinical testing

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