ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.798G>A (p.Ser266=)

gnomAD frequency: 0.00001  dbSNP: rs761391442
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585457 SCV000514700 likely benign not provided 2020-07-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585457 SCV000692816 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170799 SCV000739680 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001170799 SCV001333407 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-03-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170799 SCV001354444 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-24 criteria provided, single submitter clinical testing
Invitae RCV001170799 SCV002165793 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323532 SCV004028975 benign not specified 2023-07-21 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.