ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) (rs56342400)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576411 SCV000677470 benign Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078661 SCV000110517 benign not specified 2013-07-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078661 SCV000152644 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377718 SCV000405046 benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282735 SCV000405047 benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347637 SCV000405048 benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392374 SCV000405049 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289029 SCV000405050 benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078661 SCV000303657 benign not specified 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.