ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.*119A>G

dbSNP: rs1043962
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270460 SCV000436860 benign Collagen 6-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325493 SCV000436861 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360015 SCV000483969 likely benign Glutamate formiminotransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001712072 SCV001944802 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712072 SCV005207718 likely benign not provided criteria provided, single submitter not provided

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.