ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) (rs34152016)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125606 SCV000169063 benign not specified 2013-12-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000285765 SCV000439136 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000285765 SCV000605441 benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV000755413 SCV001105103 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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