ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.2075G>A (p.Arg692Gln) (rs371500701)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513467 SCV000226341 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193499 SCV000249403 uncertain significance not specified 2015-05-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513467 SCV000609315 uncertain significance not provided 2017-05-31 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.