ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) (rs768456731)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656067 SCV000588343 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
GeneReviews RCV000254602 SCV000321046 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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