ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.438A>G (p.Leu146=) (rs35068602)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153478 SCV000202988 benign not specified 2014-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000153478 SCV000250582 benign not specified 2015-02-06 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.
Invitae RCV000541216 SCV000630351 benign FG syndrome 1 2020-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618426 SCV000739130 likely benign Cardiovascular phenotype 2016-03-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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.