ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) (rs886042743)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000714050 SCV000336314 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV000474114 SCV000542556 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000405855 SCV000732422 likely benign not specified 2018-01-18 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.
Athena Diagnostics Inc RCV000714050 SCV000844715 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing

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