ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5928T>C (p.Thr1976=)

gnomAD frequency: 0.14937  dbSNP: rs2304460
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001517226 SCV001725679 benign Transposition of the great arteries, dextro-looped 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001638110 SCV001849479 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638110 SCV005233760 benign not provided criteria provided, single submitter not provided

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.