ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4230+118C>T

gnomAD frequency: 0.32683  dbSNP: rs7847840
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507173 SCV000603161 benign Ehlers-Danlos syndrome, classic type 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV001712466 SCV001940597 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270602 SCV002554609 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270603 SCV002554610 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712466 SCV005321132 benign not provided criteria provided, single submitter not provided

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.