ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.137A>G (p.Lys46Arg) (rs1800321)

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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 RCV000755333 SCV000604577 benign not provided 2017-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715362 SCV000846191 benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079082 SCV000110951 benign not specified 2018-05-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079082 SCV000152156 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000268490 SCV000482290 benign Ornithine carbamoyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000011741 SCV000031973 benign ORNITHINE TRANSCARBAMYLASE POLYMORPHISM 1988-02-01 no assertion criteria provided literature only
PreventionGenetics RCV000079082 SCV000304699 benign not specified 2016-02-05 criteria provided, single submitter clinical testing

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