ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1218C>T (p.Ser406=) (rs754239335)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733382 SCV000861448 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000436555 SCV000514971 likely benign not specified 2016-05-05 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 RCV000340768 SCV000439137 uncertain significance Liver failure acute infantile 2016-06-14 criteria provided, single submitter clinical testing

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