ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*4804dup

dbSNP: rs561572489
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401205 SCV000475912 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299616 SCV000475913 uncertain significance Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368214 SCV000475914 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV002225607 SCV002503978 likely benign not provided 2021-10-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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.