ClinVar Miner

Submissions for variant NM_018006.4(TRMU):c.-151G>A

gnomAD frequency: 0.00003  dbSNP: rs886057608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394611 SCV000439101 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2016-06-14 criteria provided, single submitter clinical testing

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