ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+4802T>C (rs139486133)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172711 SCV000051318 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155002 SCV000204684 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172711 SCV000704606 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172711 SCV001153130 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000172711 SCV001781926 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172711 SCV001742975 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000172711 SCV001920922 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000172711 SCV001957927 likely benign not provided no assertion criteria provided clinical testing

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