ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.612G>T (p.Thr204=)

dbSNP: rs545867472
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510580 SCV001717651 benign not provided 2023-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001510580 SCV001783257 likely benign not provided 2020-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540475 SCV004788253 likely benign COL11A1-related disorder 2020-03-16 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).
Clinical Genetics, Academic Medical Center RCV001510580 SCV002034722 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001510580 SCV002038270 likely benign not provided 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.