ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3037C>T (p.Leu1013=)

gnomAD frequency: 0.00002  dbSNP: rs775262289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192924 SCV000247524 uncertain significance not specified 2014-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089977 SCV005783825 likely benign Landau-Kleffner syndrome 2024-09-29 criteria provided, single submitter clinical testing

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