ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)

dbSNP: rs1555492758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578290 SCV000680249 likely pathogenic Landau-Kleffner syndrome 2017-12-13 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000578290 SCV002026448 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
Fondazione Telethon, Telethon Institute of Genetics and Medicine RCV000578290 SCV002577620 pathogenic Landau-Kleffner syndrome no assertion criteria provided clinical testing

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