ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003042531 SCV003329685 benign Transposition of the great arteries, dextro-looped 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809886 SCV005432758 uncertain significance not provided 2024-11-01 criteria provided, single submitter clinical testing MED13L: PM2, BP4

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.