ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile)

gnomAD frequency: 0.00008  dbSNP: rs150574045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727440 SCV000241268 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727440 SCV000708553 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000639595 SCV000761173 likely benign Landau-Kleffner syndrome 2023-11-24 criteria provided, single submitter clinical testing

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