ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)

gnomAD frequency: 0.00003  dbSNP: rs863224960
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
Athena Diagnostics Inc RCV000201136 SCV000255658 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2014-08-08 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814108 SCV001755581 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474973 SCV004211496 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-31 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.