ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3168+41T>C

gnomAD frequency: 0.29091  dbSNP: rs1012282
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 RCV000250815 SCV000308466 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582846 SCV001821608 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582845 SCV001821610 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582844 SCV001821611 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582843 SCV001821612 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001689833 SCV001906486 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689833 SCV005286692 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.