ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)

gnomAD frequency: 0.00109  dbSNP: rs140987045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118191 SCV000152548 benign not specified 2017-09-28 criteria provided, single submitter clinical testing
Invitae RCV001088612 SCV001019866 benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001573685 SCV001802119 likely benign not provided 2021-07-23 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573685 SCV001799923 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573685 SCV001972687 likely benign not provided 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.