ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) (rs3025962)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656003 SCV000588279 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224274 SCV000280610 benign not provided 2015-09-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615009 SCV000734539 benign Lissencephaly 2 no assertion criteria provided clinical testing
GeneDx RCV000118146 SCV000514391 benign not specified 2016-03-25 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.
Genetic Services Laboratory, University of Chicago RCV000118146 SCV000152494 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000374112 SCV000465976 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534134 SCV000656276 benign Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2018-01-05 criteria provided, single submitter 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.