ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=)

gnomAD frequency: 0.00026  dbSNP: rs372812865
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517640 SCV000612575 benign not specified 2016-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000831711 SCV000973464 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088434 SCV001095451 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000831711 SCV001501691 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
Ambry Genetics RCV002448557 SCV002682994 likely benign Inborn genetic diseases 2018-02-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000517640 SCV005204245 likely benign not specified 2024-06-14 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.