ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) (rs147863200)

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
Invitae RCV001087088 SCV000290144 benign Transposition of the great arteries, dextro-looped 1 2019-12-31 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000238804 SCV000297253 likely benign not specified 2015-11-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418348 SCV000511279 likely benign not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Likely 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.