ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003225010 SCV003921101 pathogenic Landau-Kleffner syndrome 2024-06-21 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2,PS4_SUP

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