ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)

dbSNP: rs2044762657
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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 RCV001260639 SCV001437731 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003227948 SCV003925651 pathogenic Landau-Kleffner syndrome 2023-04-18 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4_SUP, PM2_SUP

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