ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)

gnomAD frequency: 0.00002  dbSNP: rs757075255
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001194635 SCV001364296 uncertain significance Ullrich congenital muscular dystrophy 2 2020-04-02 criteria provided, single submitter research ACMG codes: PM2, PP3
GeneDx RCV001776138 SCV002013840 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001863068 SCV002232815 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-15 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.