ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)

gnomAD frequency: 0.00009  dbSNP: rs755279579
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518770 SCV000612536 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001059864 SCV001224516 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-05-22 criteria provided, single submitter clinical testing
GeneDx RCV005051789 SCV005685713 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.