ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) (rs397517607)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040330 SCV000064021 uncertain significance not specified 2012-08-22 criteria provided, single submitter clinical testing The Arg14814Gly variant in TTN has not been reported in the literature nor previ ously identified in our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. Additional studies are needed to fully assess the cli nical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727140 SCV000706087 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000727140 SCV000721000 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Invitae RCV001084774 SCV001106303 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-06 criteria provided, single submitter clinical testing

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