ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49649-11T>C (rs727504474)

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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 RCV000155602 SCV000205310 uncertain significance not specified 2013-04-02 criteria provided, single submitter clinical testing The 41945-11T>C variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has not been identified in large European American and African American populations by the NHLBI Exome Sequencing Project (, though it may be present in other populations. It is located in the 3' splice region. Computational tools do not s uggest an impact to splicing, though this information is not predictive enough t o rule out pathogenicity. Additional information is needed to fully assess the c linical significance of this variant.
GeneDx RCV000155602 SCV000725615 likely benign not specified 2017-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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