ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.403del (p.Ala135fs) (rs72556255)

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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 RCV000083425 SCV000115511 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000011751 SCV000031983 pathogenic Ornithine carbamoyltransferase deficiency 2002-02-01 no assertion criteria provided literature only

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