ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) (rs11090865)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000676757 SCV000884733 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Counsyl RCV000295210 SCV000793599 benign Liver failure acute infantile 2017-09-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173461 SCV000224577 benign not specified 2014-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000173461 SCV000169068 benign not specified 2012-05-23 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 RCV000295210 SCV000439113 benign Liver failure acute infantile 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676757 SCV000802558 benign not provided 2016-02-22 no assertion criteria provided clinical testing
OMIM RCV000001353 SCV000021503 risk factor Deafness, mitochondrial, modifier of 2017-08-23 no assertion criteria provided literature only

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