ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)

gnomAD frequency: 0.00001  dbSNP: rs730880064
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002229379 SCV001563906 benign Ehlers-Danlos syndrome, classic type, 1 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV003151750 SCV003840772 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD)
Mayo Clinic Laboratories, Mayo Clinic RCV003151750 SCV004225178 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157146 SCV000206869 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2014-11-13 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.