ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=)

gnomAD frequency: 0.00420  dbSNP: rs34830422
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
PreventionGenetics, part of Exact Sciences RCV000252790 SCV000310267 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000538889 SCV000656156 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001589261 SCV001826377 likely benign not provided 2020-06-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001589261 SCV002821756 benign not provided 2022-12-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7, BS1, BS2

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.