ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1864C>T (p.Pro622Ser) (rs772638774)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586552 SCV000695360 likely benign not provided 2016-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622094 SCV000738518 uncertain significance Cardiovascular phenotype 2016-03-21 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)
Color RCV001189446 SCV001356740 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-26 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.