ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6708T>C (p.Tyr2236=)

dbSNP: rs2043034940
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181470 SCV001346614 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-08-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803479 SCV005424708 likely benign Marfan syndrome 2024-03-05 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.