ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2761+15C>T

gnomAD frequency: 0.00005  dbSNP: rs760162209
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
GeneDx RCV000608077 SCV000715650 likely benign not specified 2017-02-06 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608077 SCV000731264 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing c.2761+15C>T in intron 26 of NEBL: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 1/10392 African chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs760162209).
Invitae RCV003767479 SCV004681005 likely benign Primary dilated cardiomyopathy 2023-03-20 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.