ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.52_54GCG[8] (p.Ala26del) (rs11466445)

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
Ambry Genetics RCV000246233 SCV000317736 likely benign Thoracic aortic aneurysm and aortic dissection 2012-09-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000199722 SCV000332991 likely benign not specified 2015-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000199722 SCV000250866 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in MYH11,TAADV2-PANCARD,TAAD,TAADV2-1,TGFBR1
Invitae RCV000246233 SCV000559249 likely benign Thoracic aortic aneurysm and aortic dissection 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000199722 SCV000310514 likely benign not specified 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.