ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) (rs16012)

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
Ambry Genetics RCV000715037 SCV000845861 benign History of neurodevelopmental disorder 2016-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000116515 SCV000522829 benign not specified 2016-01-11 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.
Genetic Services Laboratory, University of Chicago RCV000116515 SCV000150464 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Invitae RCV000541175 SCV000656720 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-08-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116515 SCV000306689 benign not specified 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.