ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3666+55T>C

gnomAD frequency: 0.17268  dbSNP: rs3134156
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-Nilou Lab RCV001532825 SCV001748565 benign Cohen syndrome 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001619943 SCV001845374 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619943 SCV005267275 benign not provided criteria provided, single submitter not provided

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.