ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2682+26A>C

dbSNP: rs9277932
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 RCV000244944 SCV000315351 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000834099 SCV000975867 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001582885 SCV001821692 benign Autosomal dominant nonsyndromic hearing loss 13 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582886 SCV001821693 benign Autosomal recessive nonsyndromic hearing loss 53 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582887 SCV001821694 benign Fibrochondrogenesis 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582883 SCV001821695 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582884 SCV001821696 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2021-07-22 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.