ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.299-3T>C (rs397517856)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041175 SCV000064866 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing The 299-3T>C variant in NEXN has not been reported in the literature nor previou sly identified by our laboratory. This variant has also not been identified in large European American and African American populations by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS), though it may be common in ot her populations. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not pr edictive enough to rule out pathogenicity. Additional studies are needed to full y assess its clinical significance.

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