ClinVar Miner

Submissions for variant NM_001330.5(CTF1):c.26-12C>G

gnomAD frequency: 0.00001  dbSNP: rs727502948
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150374 SCV000197505 uncertain significance not specified 2014-07-31 criteria provided, single submitter clinical testing The 26-12C>G variant in CTF1 has not been previously reported in individuals wit h cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. Howe ver, this information is not predictive enough to rule out pathogenicity. In sum mary, the clinical significance of the 26-12C>G variant is uncertain.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852713 SCV000995427 likely benign Cardiomyopathy 2019-01-10 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.