ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49648+13T>A (rs368996176)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218302 SCV000729173 likely benign not specified 2017-12-28 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 RCV000218302 SCV000271031 likely benign not specified 2015-02-18 criteria provided, single submitter clinical testing c.41944+13T>A in intron 213 of TTN: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 11/64846 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368996176).

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