ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr) (rs751640052)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247585 SCV000318051 uncertain significance Cardiovascular phenotype 2013-01-29 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725323 SCV000336048 uncertain significance not provided 2015-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000262070 SCV000720889 likely benign not specified 2017-06-27 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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