ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.369+5G>A

gnomAD frequency: 0.00019  dbSNP: rs200249470
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154795 SCV000204475 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing The 369+5G>A variant in NEBL has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 4/8600 of European American chromos omes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; d bSNP rs200249470). This variant is located in the 5' splice region. Computationa l tools suggest an impact to splicing, but this information is not predictive en ough to determine pathogenicity. In summary, the clinical significance of the 36 9+5G>A variant is uncertain.
GeneDx RCV000767201 SCV000536533 likely benign not provided 2021-08-11 criteria provided, single submitter clinical testing
Invitae RCV001089297 SCV001003312 likely benign Primary dilated cardiomyopathy 2024-01-26 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.