ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.249G>A (p.Glu83=) (rs372532824)

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, Partners HealthCare Personalized Medicine RCV000154797 SCV000204477 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Glu83Glu in Exon 04 of NEXN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence. It has been identified in 0.015% (1/6530) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject ( Glu83Glu in Exon 04 of NEXN (allele frequency =1/6530)**
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724770 SCV000230457 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000154797 SCV000521602 likely benign not specified 2015-12-01 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768798 SCV000900170 likely benign Cardiomyopathy 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV001086673 SCV001005230 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2019-12-31 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.