ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys)

gnomAD frequency: 0.00001  dbSNP: rs765104792
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238618 SCV001411441 likely benign Landau-Kleffner syndrome 2024-04-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001238618 SCV003817450 uncertain significance Landau-Kleffner syndrome 2022-06-10 criteria provided, single submitter clinical testing

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