ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.422G>C (p.Arg141Pro) (rs68026851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990786 SCV001141823 likely pathogenic Ornithine carbamoyltransferase deficiency 2019-05-28 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083435 SCV000115521 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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