ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1981G>A (p.Gly661Arg) (rs876657929)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222628 SCV000272213 uncertain significance not specified 2015-04-10 criteria provided, single submitter clinical testing The p.Gly661Arg variant in NEXN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that this variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the p.Gly661Arg variant is uncertain.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768811 SCV000900184 uncertain significance Cardiomyopathy 2016-11-24 criteria provided, single submitter clinical testing

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