ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) (rs144054758)

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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 RCV000367714 SCV000340441 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000367714 SCV001065330 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277297 SCV001464238 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-06-05 no assertion criteria provided clinical testing

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