ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2040C>T (p.Val680=)

gnomAD frequency: 0.00004  dbSNP: rs200583904
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) RCV000591037 SCV000706743 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079051 SCV001038831 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079051 SCV001460844 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided 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.