ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4185G>A (p.Ala1395=)

gnomAD frequency: 0.00004  dbSNP: rs778429009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704438 SCV000529994 likely benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000697927 SCV000826561 likely benign Landau-Kleffner syndrome 2023-09-10 criteria provided, single submitter clinical testing

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