ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)

gnomAD frequency: 0.00003  dbSNP: rs771873118
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001182488 SCV000319426 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632061 SCV000753164 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781369 SCV000919348 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182488 SCV001347950 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001577480 SCV001804867 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995698 SCV004844891 likely benign Marfan syndrome 2024-02-05 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.