ClinVar Miner

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

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Total submissions: 7
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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 RCV000724770 SCV000521602 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing
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 2020-02-12 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000154797 SCV001920439 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724770 SCV001927096 likely benign not provided no assertion criteria provided clinical testing

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