ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val)

gnomAD frequency: 0.00101  dbSNP: rs41266763
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
Invitae RCV000547820 SCV000656197 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001544739 SCV001763923 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925724 SCV004744421 likely benign COL12A1-related condition 2020-01-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.