ClinVar Miner

Submissions for variant NC_000021.9:g.(?_45981831)_(46132572_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707974 SCV000837084 pathogenic Bethlem myopathy 1A 2018-03-20 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the COL6A2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar whole gene deletion of COL6A2 has been reported in individuals affected with congenital muscular dystrophy (PMID: 21280092, 23326386). Loss-of-function variants in COL6A2 are known to be pathogenic (PMID: 19884007, 20976770). For these reasons, this variant has been classified as Pathogenic.

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.