ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln)

dbSNP: rs531431738
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
GeneDx RCV000199080 SCV000249846 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD)
Labcorp Genetics (formerly Invitae), Labcorp RCV002228848 SCV000831189 benign Ehlers-Danlos syndrome, classic type, 1 2024-12-04 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.