ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3202-14del (rs767971610)

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
GeneDx RCV000181060 SCV000233336 benign Familial thoracic aortic aneurysm and aortic dissection 2014-02-16 criteria provided, single submitter clinical testing The variant is found in TAAD panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000317947 SCV000425537 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000181060 SCV000911312 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-07 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.