ClinVar Miner

Submissions for variant NM_005045.3(RELN):c.10093G>A (p.Val3365Ile) (rs115035120)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655997 SCV000588273 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Genetic Services Laboratory, University of Chicago RCV000500411 SCV000596757 uncertain significance not specified 2016-07-08 criteria provided, single submitter clinical testing
Invitae RCV000559660 SCV000656252 benign Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2017-07-05 criteria provided, single submitter clinical testing

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