ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)

gnomAD frequency: 0.00035  dbSNP: rs142907547
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
Invitae RCV001205200 SCV001376441 likely benign Transposition of the great arteries, dextro-looped 2024-01-11 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV001205200 SCV002567937 uncertain significance Transposition of the great arteries, dextro-looped 2022-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003393882 SCV004132039 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing MED13L: PP2, BS2
PreventionGenetics, part of Exact Sciences RCV003928784 SCV004746696 likely benign MED13L-related condition 2020-09-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.