ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) (rs541040798)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727707 SCV000855055 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV000643053 SCV000764740 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-11 criteria provided, single submitter clinical testing

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