ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) (rs374094732)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725534 SCV000337585 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV001086719 SCV000555116 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000725534 SCV000727189 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000725534 SCV001742949 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000363959 SCV001917853 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000725534 SCV001957144 likely benign not provided no assertion criteria provided clinical testing

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