ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32555-12G>T (rs397517540)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000040139 SCV000518924 likely benign not specified 2017-06-16 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 RCV000040139 SCV000063830 uncertain significance not specified 2012-03-06 criteria provided, single submitter clinical testing The 28823-12G>T variant (TNN) has not been reported in the literature nor previo usly identified by our laboratory. This variant is located in the 3' splice regi on but does not alter the invariant -1 or -2 positions. Computational tools do n o predict altered splicing, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the cli nical significance of this variant.

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