ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp)

dbSNP: rs369993428
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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 RCV000656000 SCV000588276 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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