ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.497C>A (p.Ala166Glu) (rs756794418)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680132 SCV000807575 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 (G379C; phase undetermined) in a 2-month-old female with liver failure & metabolic acidosis.

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