ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.572T>G (p.Leu191Arg) (rs72556297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079086 SCV000110955 uncertain significance not provided 2013-06-10 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000079086 SCV000115578 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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