ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1329C>T (p.Pro443=)

dbSNP: rs527291598
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184013 SCV001349883 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276655 SCV002565604 uncertain significance Ehlers-Danlos syndrome 2021-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003633570 SCV004458721 likely benign Ehlers-Danlos syndrome, type 4 2023-07-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003633570 SCV004827018 likely benign Ehlers-Danlos syndrome, type 4 2023-05-08 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.