ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.617T>G (p.Met206Arg) (rs72558412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011759 SCV000031991 pathogenic Ornithine carbamoyltransferase deficiency 1999-08-27 no assertion criteria provided literature only
GenMed Metabolism Lab RCV000083513 SCV000115599 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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