ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.217-1G>A (rs72554327)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011752 SCV000031984 pathogenic Ornithine carbamoyltransferase deficiency 2002-02-01 no assertion criteria provided literature only
GenMed Metabolism Lab RCV000083365 SCV000115451 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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