ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) (rs113595214)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079294 SCV000111164 benign not specified 2012-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000079294 SCV000167500 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.
Invitae RCV000203987 SCV000262442 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244441 SCV000317953 benign Cardiovascular phenotype 2016-05-18 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
Illumina Clinical Services Laboratory,Illumina RCV000378062 SCV000377886 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282983 SCV000377887 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717070 SCV000847916 benign History of neurodevelopmental disorder 2016-05-18 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

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.