ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5134+8C>T

gnomAD frequency: 0.00238  dbSNP: rs114243233
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
Preventiongenetics, part of Exact Sciences RCV000254429 SCV000301849 benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000254429 SCV000612611 benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000532784 SCV000653721 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445797 SCV004172979 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445798 SCV004172980 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445799 SCV004172981 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445796 SCV004172982 benign Hypokalemic periodic paralysis, type 1 2023-04-11 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.