ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1660-11_1660-7del (rs727503344)

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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 RCV000151561 SCV000199705 uncertain significance not specified 2013-04-03 criteria provided, single submitter clinical testing The 1660-11_1660-7del variant in NEXN has not been reported in the literature no r previously identified by our laboratory. This variant has been identified in 2 /7824 European American chromosomes by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/). This variant is located in the 3' splice region. Computational tools suggest a possible impact to splicing, though this informati on is not predictive enough to determine pathogenicity. Additional information i s needed to fully assess the clinical significance of this variant.

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