ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu)

gnomAD frequency: 0.00054  dbSNP: rs548721041
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
Invitae RCV002119441 SCV002394001 likely benign Achondrogenesis, type IA 2023-10-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277018 SCV002567055 likely benign Connective tissue disorder 2020-07-09 criteria provided, single submitter clinical testing

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.