ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1823-31C>T

gnomAD frequency: 0.02707  dbSNP: rs117330552
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
Eurofins Ntd Llc (ga) RCV000079773 SCV000111656 benign not specified 2012-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079773 SCV000308184 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001550292 SCV001770597 likely benign not provided 2018-06-26 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.