ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr)

gnomAD frequency: 0.52582  dbSNP: rs938609
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
Genome-Nilou Lab RCV001548934 SCV001768946 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548935 SCV001768947 benign Osteochondritis dissecans 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548936 SCV001768948 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253843 SCV002524332 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
Breakthrough Genomics, Breakthrough Genomics RCV004715480 SCV005294754 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528727 SCV001740958 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528727 SCV001955700 benign not specified no assertion criteria provided 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.