ClinVar Miner

Submissions for variant NM_001375524.1(TRRAP):c.4953+5C>T

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 RCV002948113 SCV003271598 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV003128460 SCV003804809 uncertain significance See cases 2023-01-17 criteria provided, single submitter clinical testing ACMG categories: PM2

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.