ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.237G>A (p.Pro79=)

gnomAD frequency: 0.00142  dbSNP: rs141960487
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000414 SCV001157214 likely benign not specified 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV001510440 SCV001717475 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001510440 SCV001783420 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918638 SCV004730615 likely benign COL9A3-related condition 2019-05-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.