ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)

dbSNP: rs111929073
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
Blueprint Genetics RCV000087633 SCV000263806 likely pathogenic Ehlers-Danlos syndrome, type 4 2015-04-29 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory, University of Washington RCV000087633 SCV000120524 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided 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.