ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.733G>A (p.Gly245Arg) (rs1166698)

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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 RCV000041182 SCV000064873 benign not specified 2011-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000041182 SCV000170745 benign not specified 2013-01-31 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.
PreventionGenetics,PreventionGenetics RCV000041182 SCV000315947 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245136 SCV000317424 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000041182 SCV000740644 benign not specified 2016-06-18 criteria provided, single submitter clinical testing
Invitae RCV000860033 SCV000999943 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-12-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041182 SCV001740038 benign not specified no assertion criteria provided clinical testing

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