ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del)

dbSNP: rs1555494676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656047 SCV000588323 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control deletion

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