ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3989+1G>A

dbSNP: rs587776693
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
Revvity Omics, Revvity RCV001781208 SCV002018027 pathogenic not provided 2021-08-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000009014 SCV004041304 pathogenic Episodic ataxia type 2 2023-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001781208 SCV005201903 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22942164, 26912519, 8898206)
OMIM RCV000009014 SCV000029229 pathogenic Episodic ataxia type 2 1996-11-01 no assertion criteria provided literature only

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.