ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) (rs1051375)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079298 SCV000111168 benign not specified 2014-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000079298 SCV000167505 benign not specified 2011-07-10 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.
PreventionGenetics,PreventionGenetics RCV000079298 SCV000305454 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251547 SCV000317643 benign Cardiovascular phenotype 2015-09-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000715230 SCV000846058 benign History of neurodevelopmental disorder 2015-09-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000860304 SCV001000316 benign Long QT syndrome 2019-12-31 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.