ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.733G>A (p.Gly245Arg) (rs1166698)

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Total submissions: 8
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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 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
Illumina Clinical Services Laboratory,Illumina RCV000339270 SCV000358973 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406570 SCV000358974 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
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 not provided 2019-03-06 criteria provided, single submitter clinical testing

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