ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39548-8A>G (rs369594816)

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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 RCV000723598 SCV000114382 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152361 SCV000201281 uncertain significance not specified 2013-05-03 criteria provided, single submitter clinical testing The 32246-8A>G variant in TTN has not been reported in individuals with cardiomy opathy, but has been identified in 3/3650 African American chromosomes by the NH LBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pa thogenicity. Additional studies are needed to fully assess its clinical signifi cance.
GeneDx RCV000723598 SCV000715467 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Invitae RCV001089077 SCV001007191 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-03 criteria provided, single submitter clinical testing

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