ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1806A>G (p.Ser602=)

gnomAD frequency: 0.00001  dbSNP: rs745643129
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611446 SCV000714533 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001841497 SCV001352979 likely benign Cardiac arrhythmia 2019-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003657031 SCV001636219 likely benign not provided 2024-06-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841497 SCV004828527 likely benign Cardiac arrhythmia 2023-09-04 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.