ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*884A>G

gnomAD frequency: 0.28211  dbSNP: rs334348
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
Illumina Laboratory Services, Illumina RCV000267995 SCV000475672 benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325466 SCV000475673 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382288 SCV000475674 benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000325466 SCV001722506 benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278627 SCV002566128 benign Ehlers-Danlos syndrome 2019-11-15 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.