ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*858C>T

gnomAD frequency: 0.00443  dbSNP: rs142745018
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 RCV000366016 SCV000442973 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271397 SCV000442974 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303088 SCV000442975 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263623 SCV002544780 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TGFBR2: BS1

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.