ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.32876-8C>T (rs371318311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725591 SCV000337972 uncertain significance not provided 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000040163 SCV000516620 benign not specified 2016-04-13 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 RCV000462243 SCV000555040 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040163 SCV000063854 uncertain significance not specified 2012-01-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 30095-8C>T variant (TTN) has been identified in 0.1% (4/2944) of African American chromosomes by the NHLBI Exome Sequencing Project in a broad population (http://evs.gs.washington.edu/EVS). This variant is located in the 3' splice region and computational tools do not predict altered splicing, though this information is not predictive enough to rule out pathogenicity. Although this data suggests that the 30095-8C>T variant may be benign, additional information is needed to fully assess its clinical significance.

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