ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) (rs201258230)

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 RCV000723666 SCV000111158 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV001086024 SCV000285592 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000250233 SCV000305449 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356705 SCV000377840 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273554 SCV000377841 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617472 SCV000735225 likely benign Cardiovascular phenotype 2015-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics RCV000716637 SCV000847479 likely benign History of neurodevelopmental disorder 2015-11-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000250233 SCV001159757 benign not specified 2018-07-18 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.