ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32198-10T>C (rs371121439)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000040132 SCV000525013 likely benign not specified 2017-04-12 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 RCV000040132 SCV000063823 uncertain significance not specified 2013-02-20 criteria provided, single submitter clinical testing The 28466-10T>C variant in TTN has not been reported in the literature nor previ ously identified by our laboratory but has been identified in 1/8188 European Am erican chromosomes from a large population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This variant is located in the 3' splice r egion but computational tools do not suggest an impact to splicing. However, thi s information is not predictive enough to rule out pathogenicity. Additional stu dies are needed to fully assess its clinical significance.

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