ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.865-5G>A

gnomAD frequency: 0.00005  dbSNP: rs727505353
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000156912 SCV000206633 uncertain significance not specified 2016-04-26 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000869575 SCV000531383 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Invitae RCV001456331 SCV001660109 likely benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2021-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444647 SCV002682528 likely benign Cardiovascular phenotype 2021-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Blueprint Genetics RCV000157392 SCV000207130 uncertain significance Primary dilated cardiomyopathy 2014-08-05 no assertion criteria provided 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.