ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) (rs139504522)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769099 SCV000900472 uncertain significance Cardiomyopathy 2017-09-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726573 SCV000701611 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000595289 SCV000238073 likely benign not specified 2018-01-03 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 RCV000464067 SCV000555541 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-22 criteria provided, single submitter clinical testing

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