ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.158-3C>G

dbSNP: rs111668273
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
Color Diagnostics, LLC DBA Color Health RCV001188719 SCV001355853 uncertain significance Cardiomyopathy 2018-12-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is located close to intron 2 canonical splice site of the MYL3 gene. Computational splicing tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, RNA study has not been performed to confirm the prediction. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Fulgent Genetics, Fulgent Genetics RCV002484032 SCV002794400 uncertain significance Hypertrophic cardiomyopathy 8 2021-08-20 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.