ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68208T>A (p.Val22736=) (rs727503575)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727192 SCV000706532 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000152241 SCV000721998 likely benign not specified 2017-08-08 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152241 SCV000201044 likely benign not specified 2014-05-22 criteria provided, single submitter clinical testing Val20168Val in Exon 269 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence.

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