ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4151C>T (p.Ser1384Leu)

gnomAD frequency: 0.00001  dbSNP: rs866228360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993944 SCV002263949 likely benign Landau-Kleffner syndrome 2023-07-17 criteria provided, single submitter clinical testing

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