ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) (rs142540948)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078573 SCV001010390 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000869001 SCV001153674 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
GeneReviews RCV000254608 SCV000321058 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656073 SCV000588349 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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