ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) (rs41275239)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153826 SCV000203407 benign not specified 2015-04-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000153826 SCV000248706 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300594 SCV000465946 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000153826 SCV000514398 benign not specified 2017-12-13 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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000603002 SCV000598588 uncertain significance Lissencephaly 2 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514000 SCV000610406 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000514000 SCV000656319 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514000 SCV000843466 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603002 SCV000734537 likely benign Lissencephaly 2 no assertion criteria provided clinical testing

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.