ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2434+15_2434+54del

dbSNP: rs1064795349
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000528455 SCV000657028 benign Bethlem myopathy 1A 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001550157 SCV001770444 likely benign not provided 2019-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000485774 SCV000571065 likely benign not specified 2016-08-10 flagged submission clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.