ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3351C>G (p.Ile1117Met)

gnomAD frequency: 0.00001  dbSNP: rs1462511588
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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 RCV001874470 SCV002128111 likely benign Landau-Kleffner syndrome 2024-09-30 criteria provided, single submitter clinical testing

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