ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26762-9A>G (rs200821070)

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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 RCV000214580 SCV000272600 uncertain significance not specified 2015-10-01 criteria provided, single submitter clinical testing The c.23030-9A>G variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 3' splice region. Computational tools do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.23030-9A>G variant is uncertain.
Invitae RCV000731117 SCV000555542 likely benign not provided 2016-04-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731117 SCV000858894 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV001397462 SCV001599209 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-04-12 criteria provided, single submitter clinical testing

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