ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) (rs267606743)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018967 SCV000039254 pathogenic Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2014-11-01 no assertion criteria provided literature only
OMIM RCV000170340 SCV000222748 pathogenic Retinal arteries, tortuosity of 2014-11-01 no assertion criteria provided literature only

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.