ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1870+3481C>T (rs181347577)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080161 SCV000286364 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513993 SCV000610347 likely benign not provided 2017-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717993 SCV000848854 benign Seizures 2016-10-24 criteria provided, single submitter clinical testing Insufficient evidence
Mendelics RCV000990423 SCV001141408 likely benign Epilepsy, familial focal, with variable foci 1 2019-05-28 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656069 SCV000588345 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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