ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.711-6G>A (rs113471285)

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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 RCV000036613 SCV000060268 uncertain significance not specified 2014-07-31 criteria provided, single submitter clinical testing The 690-6G>A variant in TNNT2 has been identified by our laboratory in 1 Caucasi an individual with DCM (Morales 2010), who also carried a second TNNT2 variant o n the same copy of the gene (in cis). This variant was absent from large populat ion studies, but has been listed in dbSNP without frequency information (dbSNP r s113471285). This variant is located in the 3' splice region. Computational tool s do not suggest an impact to splicing. However, this information is not predict ive enough to rule out pathogenicity. In summary, the clinical significance of t he 690-6G>A variant is uncertain.
GeneDx RCV000036613 SCV000514926 benign not specified 2015-05-08 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.
Invitae RCV000646081 SCV000767838 likely benign not provided 2018-11-02 criteria provided, single submitter clinical testing

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