ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4032G>A (p.Ser1344=) (rs145048734)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000378163 SCV000342551 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315738 SCV000428809 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653679 SCV000775562 benign Bethlem myopathy 1 2017-12-11 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.