ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51887G>A (p.Arg17296His) (rs200456782)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194914 SCV000249262 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000194914 SCV000725789 likely benign not specified 2017-12-26 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 RCV000642862 SCV000764549 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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