ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2769C>T (p.His923=) (rs140419176)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079886 SCV000111769 benign not specified 2012-11-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079886 SCV000308305 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402270 SCV000436808 likely benign Myosclerosis, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298848 SCV000436809 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000585142 SCV000512734 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15689448)
Invitae RCV001084163 SCV000657172 benign Bethlem myopathy 1 2020-11-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585142 SCV000693067 uncertain significance not provided 2017-10-01 criteria provided, single submitter 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.