ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenMed Metabolism Lab RCV000083507 SCV000115593 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneDx RCV000083507 SCV000583403 likely pathogenic not provided 2016-05-26 criteria provided, single submitter clinical testing

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