ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)

gnomAD frequency: 0.00005  dbSNP: rs11701912
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070476 SCV001235723 likely benign Bethlem myopathy 1A 2022-09-01 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001070476 SCV004171576 uncertain significance Bethlem myopathy 1A 2023-11-24 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.