ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4446C>T (p.Gly1482=)

gnomAD frequency: 0.00001  dbSNP: rs772727859
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
GeneDx RCV001698115 SCV000725157 likely benign not provided 2019-12-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186249 SCV001352622 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002528539 SCV003216038 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002568 SCV004814725 likely benign Marfan syndrome 2023-12-01 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.