ClinVar Miner

Submissions for variant NM_000070.2(CAPN3):c.319G>A (p.Glu107Lys) (rs1801505)

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
Athena Diagnostics Inc RCV000711020 SCV000841338 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175518 SCV000227011 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000175518 SCV000518289 benign not specified 2016-01-25 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 RCV000557777 SCV000645500 benign Limb-girdle muscular dystrophy, type 2A 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000175518 SCV000711704 benign not specified 2017-03-06 criteria provided, single submitter clinical testing p.Glu107Lys in exon 2 of CAPN3: This variant is not expected to have clinical significance because it has been identified in 2.8% (188/66736) of European (Finnish) chromosomes including 2 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150616566)
PreventionGenetics RCV000175518 SCV000301885 likely benign not specified 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.