ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) (rs79499902)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118156 SCV000152505 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118156 SCV000229793 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118156 SCV000310792 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304146 SCV000465949 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118156 SCV000518190 benign not specified 2015-11-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000118156 SCV000614869 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV000544742 SCV000656311 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656001 SCV000588277 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.