ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp)

gnomAD frequency: 0.00005  dbSNP: rs369878342
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699031 SCV000827725 likely benign Landau-Kleffner syndrome 2023-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000699031 SCV000895065 uncertain significance Landau-Kleffner syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001576213 SCV001803351 likely benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000699031 SCV003817435 uncertain significance Landau-Kleffner syndrome 2021-12-07 criteria provided, single submitter clinical testing

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