ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003132629 SCV003810898 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005060958 SCV005711049 likely benign Transposition of the great arteries, dextro-looped 2024-09-27 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.