ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) (rs72646887)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246306 SCV000319021 likely benign Cardiovascular phenotype 2013-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725903 SCV000701186 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000424783 SCV000530464 likely benign not specified 2016-07-27 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 RCV000476736 SCV000542256 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-17 criteria provided, single submitter clinical testing

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