ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=)

gnomAD frequency: 0.00001  dbSNP: rs780229549
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663803 SCV001879491 likely benign not specified 2020-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003615872 SCV004529009 likely benign Familial hyperkalemic periodic paralysis 2023-02-16 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.