ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=)

gnomAD frequency: 0.00002  dbSNP: rs776884902
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457863 SCV000562871 likely benign Long QT syndrome 2023-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618772 SCV000737782 likely benign Cardiovascular phenotype 2017-02-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001672799 SCV001889251 benign not provided 2015-03-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700193 SCV001921446 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001672799 SCV001952211 likely benign not provided 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.