ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) (rs373875040)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039863 SCV000063554 benign not specified 2012-01-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039863 SCV000114324 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000039863 SCV000515092 benign not specified 2015-08-14 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 RCV000462177 SCV000555329 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039863 SCV000615997 benign not specified 2016-10-28 criteria provided, single submitter clinical testing

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