ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu)

dbSNP: rs771608215
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751512 SCV001986599 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
GenomeConnect, ClinGen RCV001249365 SCV001423352 not provided Autosomal recessive limb-girdle muscular dystrophy type 2A no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 10-07-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.