ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.1051+10G>A

gnomAD frequency: 0.01573  dbSNP: rs75524333
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582104 SCV001818774 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001582104 SCV002448832 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253882 SCV002524270 benign Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253881 SCV002524271 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253880 SCV002524273 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582104 SCV005213365 likely 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.