ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2656-28T>C

gnomAD frequency: 0.32791  dbSNP: rs1903787
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243560 SCV000308459 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582833 SCV001821617 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582832 SCV001821618 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582831 SCV001821619 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582830 SCV001821621 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001640519 SCV001855856 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640519 SCV005286703 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.