ClinVar Miner

Submissions for variant NM_018006.4(TRMU):c.-113G>C

dbSNP: rs182529223
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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 RCV000304928 SCV000439105 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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