ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.248+9_248+18del (rs763718617)

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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 RCV000728273 SCV000855826 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
Invitae RCV000728273 SCV001058109 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277296 SCV001464236 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-06-17 no assertion criteria provided clinical testing

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