ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) (rs16024)

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
Ambry Genetics RCV000210670 SCV000262956 likely benign Inborn genetic diseases 2016-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000715038 SCV000845862 likely benign History of neurodevelopmental disorder 2017-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting pathogenic classification,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000432960 SCV000841258 likely benign not provided 2018-01-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432960 SCV000511435 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000432960 SCV000226886 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000175409 SCV000512441 benign not specified 2016-11-17 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 RCV000540624 SCV000656743 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-12-20 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660566 SCV000782677 likely benign Epileptic encephalopathy, early infantile, 42 2017-06-12 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.