ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2340+9_2340+13del

dbSNP: rs374301870
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000894675 SCV001038676 benign not provided 2025-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000894675 SCV001756993 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701352 SCV001921801 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000894675 SCV001966964 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530994 SCV004753130 benign COL11A1-related disorder 2019-06-20 no assertion criteria provided clinical testing This variant is classified as 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.