ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1158-3C>T (rs727503136)

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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 RCV000150951 SCV000198613 uncertain significance not specified 2014-04-01 criteria provided, single submitter clinical testing The 1158-3C>T variant in LMNA has not been previously reported in individuals wi th cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. How ever, this information is not predictive enough to rule out pathogenicity. Addit ional information is needed to fully assess the clinical significance of the var iant.

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