ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1323A>G (p.Pro441=) (rs202030761)

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
Invitae RCV000228239 SCV000283605 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000430496 SCV000512988 benign not specified 2015-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000617794 SCV000738829 likely benign Cardiovascular phenotype 2016-12-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000771997 SCV000904953 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430496 SCV001572530 likely benign not specified 2021-04-15 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000663450 SCV000786743 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided 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.