ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33827-8C>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
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 vari ant (TTN) has been identified in 0.1% (4/2944) of African American chromosomes b y the NHLBI Exome Sequencing Project in a broad population ( This variant is located in the 3' splice region and computational tools do not predict altered splicing, though this information is not predictiv e enough to rule out pathogenicity. Although this data suggests that the 30095-8 C>T variant may be benign, additional information is needed to fully assess its clinical significance.
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 RCV001088808 SCV000555040 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-20 criteria provided, single submitter clinical testing

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