ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.363G>A (p.Thr121=) (rs35117963)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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)
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.
Invitae RCV000231898 SCV000291371 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242769 SCV000318797 benign Cardiovascular phenotype 2015-07-08 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768800 SCV000900172 benign Cardiomyopathy 2016-06-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284866 SCV001470959 benign none provided 2020-03-18 criteria provided, single submitter clinical testing

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