ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe)

gnomAD frequency: 0.00006  dbSNP: rs114131542
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
Eurofins Ntd Llc (ga) RCV000347436 SCV000344697 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267601 SCV000428785 likely benign Collagen 6-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000792240 SCV000931521 likely benign Bethlem myopathy 1A 2024-12-13 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.