ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.351T>C (p.Asn117=) (rs117710834)

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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 RCV000727972 SCV000855488 uncertain significance not provided 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000727972 SCV001086876 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277298 SCV001464239 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2019-11-11 no assertion criteria provided clinical testing

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