ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=)

gnomAD frequency: 0.00006  dbSNP: rs16045
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 RCV002318214 SCV000851484 benign Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521122 SCV001730392 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000884790 SCV001859645 benign not provided 2020-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884790 SCV004137988 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1A: BS1, BS2

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.