ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5066-12C>A

dbSNP: rs531105331
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
Color Diagnostics, LLC DBA Color Health RCV001176822 SCV001340882 benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068175 SCV002383625 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222247 SCV003917383 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing FBN1: BS1
All of Us Research Program, National Institutes of Health RCV004006327 SCV004823898 benign Marfan syndrome 2023-12-13 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.