ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.145C>A (p.Arg49Ser)

gnomAD frequency: 0.00001  dbSNP: rs1413736970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802443 SCV000942275 likely benign Landau-Kleffner syndrome 2022-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411765 SCV004141115 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing GRIN2A: PP3, BS2

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