ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.832-9A>G

gnomAD frequency: 0.00904  dbSNP: rs114748616
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
Athena Diagnostics RCV000517840 SCV000615841 benign not specified 2020-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525876 SCV000654303 benign Autosomal recessive limb-girdle muscular dystrophy type R18 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001591174 SCV001814673 likely benign not provided 2020-12-03 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.