ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)

gnomAD frequency: 0.00037  dbSNP: rs144966407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474179 SCV001678347 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001474179 SCV001789305 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; PMID: 25240749); This variant is associated with the following publications: (PMID: 25240749)
PreventionGenetics, part of Exact Sciences RCV004533828 SCV004727184 likely benign COL11A1-related disorder 2024-02-02 no assertion criteria provided 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.