ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)

gnomAD frequency: 0.00031  dbSNP: rs116980451
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686474 SCV000813993 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001584554 SCV001819501 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV000686474 SCV002782963 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001584554 SCV003833306 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001584554 SCV004159775 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing COL12A1: PM2

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.