ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) (rs34419050)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079279 SCV000111149 benign not specified 2013-01-03 criteria provided, single submitter clinical testing
Invitae RCV000205452 SCV000262478 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079279 SCV000305445 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242482 SCV000317403 benign Cardiovascular phenotype 2015-03-25 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
Illumina Clinical Services Laboratory,Illumina RCV000266437 SCV000377586 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302879 SCV000377587 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715356 SCV000846185 benign History of neurodevelopmental disorder 2015-03-25 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
Integrated Genetics/Laboratory Corporation of America RCV000029419 SCV000052069 benign Cardiac arrhythmia 2013-04-22 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.