ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr)

gnomAD frequency: 0.00002  dbSNP: rs780654733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000471487 SCV001248291 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV001501303 SCV001706110 likely benign Landau-Kleffner syndrome 2022-06-23 criteria provided, single submitter clinical testing
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656043 SCV000588319 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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