ClinVar Miner

Submissions for variant NM_018006.4(TRMU):c.-87T>C

gnomAD frequency: 0.00164  dbSNP: rs184994382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359794 SCV000439106 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001590996 SCV001822750 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing

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