ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) (rs201738153)

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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 RCV000040141 SCV000063832 likely benign not specified 2017-08-28 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000725191 SCV000286580 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254304 SCV000318144 uncertain significance Cardiovascular phenotype 2013-01-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725191 SCV000334809 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000725191 SCV000972438 likely benign not provided 2018-04-27 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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