ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.480+10C>A

dbSNP: rs377230358
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 RCV000156707 SCV000206428 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing 480+10C>A in exon 5 of NEBL: This variant is not expected to have clinical signi ficance because it is not located within the splice consensus sequence.
GeneDx RCV000842185 SCV000984183 likely benign not provided 2018-04-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002053889 SCV002487060 likely benign Primary dilated cardiomyopathy 2022-04-28 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.