ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.145A>C (p.Thr49Pro)

dbSNP: rs72554316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003485536 SCV004235687 uncertain significance Ornithine carbamoyltransferase deficiency 2023-05-23 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083344 SCV000115430 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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