ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.931G>A (p.Val311Met)

dbSNP: rs72558468
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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 RCV003485538 SCV004235689 uncertain significance Ornithine carbamoyltransferase deficiency 2023-07-09 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083612 SCV000115698 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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