ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) (rs144398602)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193322 SCV000249278 uncertain significance not specified 2014-08-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000193322 SCV000272751 uncertain significance not specified 2016-03-03 criteria provided, single submitter clinical testing The p.Thr22097Met variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 15/66394 European chromosomes b y the Exome Aggregation Consortium (ExAC,; dbSNP rs144398602). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Thr22097Met variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727062 SCV000705294 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852504 SCV000995200 uncertain significance Cardiomyopathy 2017-12-15 criteria provided, single submitter clinical testing

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