ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)

gnomAD frequency: 0.00003  dbSNP: rs933962712
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
GeneDx RCV000840193 SCV000982113 likely benign not provided 2018-03-16 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.
Color Diagnostics, LLC DBA Color Health RCV001190218 SCV001357661 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001455973 SCV001659746 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190218 SCV002633695 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-08 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001190218 SCV003838351 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002888 SCV004814705 likely benign Marfan syndrome 2023-12-07 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.