ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26201-11dup (rs727503644)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152392 SCV000201371 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing The 22469-7_22469-6insT variant in TTN has not been previously reported in indiv iduals with cardiomyopathy. Data from large population studies is insufficient t o assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this i nformation is not predictive enough to rule out pathogenicity. In summary, the c linical significance of this variant is uncertain.
Invitae RCV000463344 SCV000555123 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000152392 SCV000713974 likely benign not specified 2017-10-27 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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