ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.6633_6635CCA[8] (p.His2220del) (rs759331923)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718271 SCV000849133 benign History of neurodevelopmental disorder 2017-02-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437029 SCV000510943 likely benign not provided 2016-09-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000484910 SCV000568082 benign not specified 2016-06-21 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 RCV000551503 SCV000656798 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-09-20 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.