ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2858C>A (p.Pro953His) (rs376744360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863840 SCV001004562 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000254622 SCV000321056 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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