ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln) (rs35366555)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154659 SCV000170747 benign not specified 2014-03-14 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, Partners HealthCare Personalized Medicine RCV000154659 SCV000204336 benign not specified 2013-07-18 criteria provided, single submitter clinical testing Glu470Gln in exon 11 of NEXN: This variant is not expected to have clinical sign ificance because it has been identified in 1.0% (36/3586) of African American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S; dbSNP rs35366555).
Invitae RCV000204884 SCV000260567 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245536 SCV000320172 benign Cardiovascular phenotype 2015-10-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170729 SCV001333332 benign Cardiomyopathy 2017-11-02 criteria provided, single submitter clinical testing

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