ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.167T>C (p.Met56Thr) (rs72554320)

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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 RCV000507068 SCV000604578 likely pathogenic not specified 2017-02-02 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083354 SCV000115440 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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