ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1891-8G>C

dbSNP: rs12720064
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842723 SCV001342638 uncertain significance Cardiac arrhythmia 2019-06-19 criteria provided, single submitter clinical testing This variant is located in the intron 12 splice acceptor region of the SCN5A gene. Computational splicing tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/242618 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003657046 SCV001639115 likely benign not provided 2024-04-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001842723 SCV005423938 likely benign Cardiac arrhythmia 2024-03-24 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.