ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.708C>T (p.Thr236=)

gnomAD frequency: 0.00019  dbSNP: rs34668206
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003595990 SCV000559595 likely benign FG syndrome 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318554 SCV000850506 benign Familial thoracic aortic aneurysm and aortic dissection 2017-02-22 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV003437216 SCV004165337 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MED12: BP4, BP7, BS2

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.