ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1399-3C>T (rs397517486)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039900 SCV000063591 uncertain significance not specified 2012-08-14 criteria provided, single submitter clinical testing The 1399-3C>T variant in TTN has not been reported in the literature nor previou sly identified by our laboratory. This variant is located in the 3' splice regio n. Computational tools do not suggest an impact to splicing, though this informa tion is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV000039900 SCV000236636 likely benign not specified 2016-12-07 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 RCV000461970 SCV000542778 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092344 SCV001248796 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing

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