ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) (rs73714410)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000370216 SCV000465910 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118175 SCV000514402 benign not specified 2015-09-23 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515078 SCV000610848 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV000515078 SCV000656381 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000515078 SCV000843481 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118175 SCV000152531 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.

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.