ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.653C>T (p.Thr218Met)

gnomAD frequency: 0.00043  dbSNP: rs369083173
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178900 SCV000231076 uncertain significance not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311030 SCV000320434 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-06 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 RCV001421490 SCV001624014 likely benign FG syndrome 1 2021-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000178900 SCV001830898 benign not provided 2021-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985289 SCV004757592 likely benign MED12-related disorder 2022-08-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.