ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.939G>A (p.Pro313=) (rs78369269)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116547 SCV000301899 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116547 SCV000527059 benign not specified 2017-09-26 criteria provided, single submitter 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.
Invitae RCV001085863 SCV000645519 benign Limb-girdle muscular dystrophy, type 2A 2020-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711023 SCV000841341 benign not provided 2017-11-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116547 SCV000150504 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001085863 SCV001454330 benign Limb-girdle muscular dystrophy, type 2A 2020-09-16 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.