ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.596A>G (p.Asn199Ser) (rs72558406)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000083507 SCV000583403 likely pathogenic not provided 2016-05-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000083507 SCV001249294 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083507 SCV000115593 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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