ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) (rs117551279)

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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 RCV000769071 SCV000900444 uncertain significance Cardiomyopathy 2017-04-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726445 SCV000701415 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000185359 SCV000238253 likely benign not specified 2017-08-03 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 RCV000463856 SCV000555607 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-27 criteria provided, single submitter clinical testing

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