ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2776-14T>C (rs201611946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040120 SCV000063811 uncertain significance not specified 2013-03-08 criteria provided, single submitter clinical testing The 2776-14T>C variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 1/1275 ch romosomes from a broad, though clinically and racially unspecified population (d bSNP rs201611946). This variant is located in the 3' splice region. Computationa l tools do not suggest an impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. Additional studies are needed to ful ly assess its clinical significance.
GeneDx RCV000040120 SCV000515078 likely benign not specified 2017-09-14 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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