ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9405+9A>G (rs184381851)

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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624961 SCV000744237 likely benign Cohen syndrome 2017-07-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000395399 SCV000332962 benign not specified 2015-07-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000395399 SCV000153498 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624961 SCV000743194 benign Cohen syndrome 2014-10-09 criteria provided, single submitter clinical testing
Invitae RCV000624961 SCV000755411 benign Cohen syndrome 2017-12-27 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.