ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.830G>A (p.Arg277Gln) (rs66724222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507904 SCV000604576 pathogenic not specified 2016-10-18 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083587 SCV000115673 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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