ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)

gnomAD frequency: 0.00501  dbSNP: rs35292916
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
PreventionGenetics, part of Exact Sciences RCV000254078 SCV000310293 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000528610 SCV000656215 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001651183 SCV001868029 benign not provided 2018-07-09 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.