ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) (rs200018866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533668 SCV000642735 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000728768 SCV000729096 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728768 SCV000856381 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing

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