ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32554+5_32554+6del (rs771419718)

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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 RCV000770068 SCV000901494 uncertain significance Cardiomyopathy 2017-01-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725811 SCV000701149 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000592573 SCV000730355 likely benign not specified 2017-07-13 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 RCV000535458 SCV000642988 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-09 criteria provided, single submitter clinical testing

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