ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11614G>A (p.Gly3872Ser) (rs754936734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621266 SCV000736624 uncertain significance Cardiovascular phenotype 2016-06-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
GeneDx RCV000614748 SCV000718970 likely benign not specified 2017-04-27 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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