ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fondazione Telethon, Telethon Institute of Genetics and Medicine RCV002287580 SCV002577619 pathogenic Landau-Kleffner syndrome no assertion criteria provided clinical testing

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