ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) (rs370070176)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725106 SCV000334037 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000322924 SCV000725758 likely benign not specified 2017-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000643874 SCV000765561 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing

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