ClinVar Miner

Submissions for variant NM_018006.4(TRMU):c.-117G>C

gnomAD frequency: 0.02778  dbSNP: rs116519615
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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 RCV000268531 SCV000439104 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000830903 SCV000972642 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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