ClinVar Miner

Submissions for variant NM_001128929.3(ROBO2):c.19C>A (p.Arg7Ser)

dbSNP: rs12171318
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000604276 SCV000743807 benign Vesicoureteral reflux 2 2016-02-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604276 SCV000734291 benign Vesicoureteral reflux 2 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003983146 SCV004796224 benign ROBO2-related disorder 2020-11-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.