ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) (rs374494927)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152212 SCV000200980 uncertain significance not specified 2014-04-15 criteria provided, single submitter clinical testing The Tyr22807Phe variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8264 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational prediction tools and conservation analysis suggest that this varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. Additional information is needed to fully assess the clin ical significance of the Tyr22807Phe variant.
Genetic Services Laboratory, University of Chicago RCV000152212 SCV000597680 uncertain significance not specified 2017-04-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727226 SCV000706753 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000642829 SCV000764516 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171265 SCV001333974 uncertain significance Cardiomyopathy 2018-06-01 criteria provided, single submitter clinical testing

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