ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) (rs375533809)

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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 RCV000726498 SCV000701500 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000726498 SCV000720149 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27662471, 28831623)
Blueprint Genetics RCV000157552 SCV000207298 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-11-08 no assertion criteria provided clinical testing

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