ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6189+74A>C

dbSNP: rs16048
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541421 SCV001759418 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554421 SCV001775666 benign Developmental and epileptic encephalopathy, 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554422 SCV001775667 benign Episodic ataxia type 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554423 SCV001775668 benign Migraine, familial hemiplegic, 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554424 SCV001775669 benign Spinocerebellar ataxia type 6 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594332 SCV005087278 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 94% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 87. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001541421 SCV005314814 benign not provided criteria provided, single submitter not provided

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.