ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.7303-110T>G

gnomAD frequency: 0.38497  dbSNP: rs16942409
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
Genome-Nilou Lab RCV001549212 SCV001769323 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549213 SCV001769324 benign Osteochondritis dissecans 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549214 SCV001769325 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001673191 SCV001886553 benign not provided 2018-07-09 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.