ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.726C>T (p.Ala242=)

dbSNP: rs746812420
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842538 SCV001356524 likely benign Cardiac arrhythmia 2019-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000869407 SCV001639529 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001842538 SCV004821417 likely benign Cardiac arrhythmia 2023-09-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700477 SCV001917176 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000869407 SCV001930021 likely benign not provided no assertion criteria provided 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.