ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) (rs149964491)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177591 SCV000229489 benign not specified 2014-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001535402 SCV000249750 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Invitae RCV000539010 SCV000631473 benign Ehlers-Danlos syndrome, classic type I 2020-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619155 SCV000738409 likely benign Cardiovascular phenotype 2018-05-31 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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.