ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1176G>A (p.Thr392=) (rs34591580)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125605 SCV000339996 benign not specified 2016-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000125605 SCV000169062 benign not specified 2012-09-05 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 RCV000344055 SCV000439134 benign Liver failure acute infantile 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676763 SCV000802564 benign not provided 2016-02-29 no assertion criteria provided clinical testing

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