ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.298+5G>C (rs72554348)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000375335 SCV000334662 benign not specified 2015-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378189 SCV000482292 likely benign Ornithine carbamoyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000375335 SCV000520980 benign not specified 2016-08-25 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.
Invitae RCV000083395 SCV000631859 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718375 SCV000849237 benign History of neurodevelopmental disorder 2016-11-09 criteria provided, single submitter clinical testing
Mendelics RCV000378189 SCV001141820 benign Ornithine carbamoyltransferase deficiency 2019-05-28 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083395 SCV000115481 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
SingHealth Duke-NUS Institute of Precision Medicine RCV000378189 SCV000853171 uncertain significance Ornithine carbamoyltransferase deficiency 2017-06-07 no assertion criteria provided curation

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