ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=)

dbSNP: rs1235773868
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
Invitae RCV001425280 SCV001627906 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2023-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001425280 SCV002084226 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-10-05 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.