ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.447+5C>T (rs727503343)

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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 RCV000151559 SCV000199699 uncertain significance not specified 2014-01-28 criteria provided, single submitter clinical testing The 447+5C>T variant in NEXN has not been reported in individuals with cardiomyo pathy or in large population studies. This variant is located in the 5' splice r egion. Computational tools do not suggest an impact to splicing. However, this i nformation is not predictive enough to rule out pathogenicity. Additional inform ation is needed to fully assess the clinical significance of the 447+5C>T varian t.

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