ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8843+3A>C (rs200124755)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655999 SCV000588275 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513015 SCV000609268 uncertain significance not provided 2017-04-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603899 SCV000734531 uncertain significance Lissencephaly 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513015 SCV000231351 uncertain significance not provided 2014-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765901 SCV000897321 uncertain significance Epilepsy, lateral temporal lobe, autosomal dominant; Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2018-10-31 criteria provided, single submitter clinical testing

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