ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) (rs200121902)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085352 SCV000555325 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595403 SCV000708841 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000595403 SCV000970539 likely benign not provided 2018-05-22 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.

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