ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) (rs200778464)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040395 SCV000064086 likely benign not specified 2014-02-04 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance due to a lack of cons ervation across species, including mammals. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the p rotein.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729782 SCV000857471 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing

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