ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) (rs567781604)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152333 SCV000201228 likely benign not specified 2013-07-17 criteria provided, single submitter clinical testing Val14768Ile in exon 222 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species. Two mammalian species (mouse and platypus) carry an isoleucine (Ile, this variant) despite high nearby amino acid conservation, suggesting that this change does not result in disease .
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724961 SCV000332761 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000724961 SCV001766723 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing

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