ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) (rs773023974)

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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 RCV000174140 SCV000225386 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624682 SCV000742790 likely pathogenic Inborn genetic diseases 2017-09-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680154 SCV000807626 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory with another variant (A166E; phase undetermined) in a 2-month-old female with liver failure & metabolic acidosis. Heterozygotes would be expected to be asymptomatic carriers.

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