ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.363G>A (p.Thr121=) (rs35117963)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242769 SCV000318797 benign Cardiovascular phenotype 2015-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768800 SCV000900172 benign Cardiomyopathy 2016-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000041177 SCV000170744 benign not specified 2013-07-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000367185 SCV000358965 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275043 SCV000358966 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231898 SCV000291371 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041177 SCV000064868 benign not specified 2012-05-22 criteria provided, single submitter clinical testing 3.8% (119/3092) Afr Amer chrom (ESP)

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