ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.809A>G (p.Gln270Arg) (rs1800328)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000117884 SCV000296930 benign not specified 2015-11-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117884 SCV000304706 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335039 SCV000482297 likely benign Ornithine carbamoyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000335039 SCV000631862 benign Ornithine carbamoyltransferase deficiency 2017-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715832 SCV000846663 benign History of neurodevelopmental disorder 2014-12-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000335039 SCV000884270 benign Ornithine carbamoyltransferase deficiency 2018-08-03 criteria provided, single submitter clinical testing
Mendelics RCV000335039 SCV001141828 benign Ornithine carbamoyltransferase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117884 SCV000152157 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.
SingHealth Duke-NUS Institute of Precision Medicine RCV000335039 SCV000853172 uncertain significance Ornithine carbamoyltransferase deficiency 2017-06-07 no assertion criteria provided curation

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