ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.387A>G (p.Ala129=) (rs144586525)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178316 SCV000169055 benign not specified 2014-02-14 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178316 SCV000230375 benign not specified 2014-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346617 SCV000439117 uncertain significance Liver failure acute infantile 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000955993 SCV001102732 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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