ClinVar Miner

Submissions for variant NM_006765.3(TUSC3):c.193A>G (p.Ile65Val) (rs11545035)

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
Ambry Genetics RCV000715846 SCV000846677 likely benign History of neurodevelopmental disorder 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Sub-population frequency in support of benign classification (not ava blue, manual h-w),In silico models in agreement (benign)
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000118806 SCV000511216 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175831 SCV000227395 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175831 SCV000153451 benign not specified 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000645397 SCV000767142 benign Mental retardation, autosomal recessive 7 2017-11-23 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.