ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.34690+6C>T (rs187365142)

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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 RCV000723852 SCV000203719 uncertain significance not provided 2015-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000040193 SCV000169251 benign not specified 2014-05-01 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 RCV000465771 SCV000542867 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040193 SCV000063884 uncertain significance not specified 2015-04-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.31909+6C>T variant in TTN has been identified by our laboratory in 1 adult with DCM and 1 infant with LVNC and congenital heart defects. This variant has been identified in 0.1% (51/66730) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs187365142). The c.31909+6C>T variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.31909+6C>T variant is uncertain, its frequency suggests that it is more likely to be benign.

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