ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34660_34662GAA[1] (p.Glu11555del) (rs763098227)

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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 RCV000769041 SCV000900414 uncertain significance Cardiomyopathy 2015-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000274162 SCV000336573 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000274162 SCV000977097 likely benign not provided 2018-06-15 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 RCV000474545 SCV000542785 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-01 criteria provided, single submitter clinical testing

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