ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu)

gnomAD frequency: 0.00002  dbSNP: rs201698049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261524 SCV002541310 uncertain significance not provided 2021-11-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481067 SCV002779147 uncertain significance Landau-Kleffner syndrome 2021-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002481067 SCV004681811 likely benign Landau-Kleffner syndrome 2023-05-01 criteria provided, single submitter clinical testing

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