ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96883G>A (p.Val32295Met) (rs199532781)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727094 SCV000705607 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000592586 SCV000730895 likely benign not specified 2017-08-24 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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