ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) (rs41313031)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176338 SCV000227974 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243761 SCV000320472 benign Cardiovascular phenotype 2015-10-20 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001086004 SCV000557149 benign Brugada syndrome 2020-12-01 criteria provided, single submitter clinical testing
Mendelics RCV000987205 SCV001136454 likely benign Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV001187314 SCV001354082 benign Arrhythmia 2018-11-20 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058614 SCV000090134 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:15851227;PMID:18599870;PMID:19841300;PMID:20129283).
CSER _CC_NCGL, University of Washington RCV000148841 SCV000190582 likely benign Brugada syndrome, lidocaine-induced 2014-06-01 no assertion criteria provided research

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.