ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1970_1978delinsT (p.Glu657fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004782229 SCV005395948 likely pathogenic Landau-Kleffner syndrome 2024-08-22 criteria provided, single submitter clinical testing

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