ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val) (rs551387805)

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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 RCV000252473 SCV000320474 uncertain significance Cardiovascular phenotype 2015-11-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000546848 SCV000642650 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000615733 SCV000730231 likely benign not specified 2017-05-04 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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