ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39548-8A>G (rs369594816)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723598 SCV000114382 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000152361 SCV000715467 likely benign not specified 2017-01-26 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152361 SCV000201281 uncertain significance not specified 2013-05-03 criteria provided, single submitter clinical testing The 32246-8A>G variant in TTN has not been reported in individuals with cardiomy opathy, but has been identified in 3/3650 African American chromosomes by the NH LBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pa thogenicity. Additional studies are needed to fully assess its clinical signifi cance.

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