ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.249G>A (p.Glu83=) (rs372532824)

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Total submissions: 4
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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 (http://evs.gs.washington.edu/EVS). 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

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