ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser)

dbSNP: rs1555491648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001782992 SCV002026460 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656046 SCV000588322 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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