ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly)

gnomAD frequency: 0.00004  dbSNP: rs1180402350
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
GeneDx RCV001753347 SCV002007389 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001885097 SCV002157485 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-09-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001753347 SCV003833286 uncertain significance not provided 2021-09-20 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.