ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.238A>G (p.Lys80Glu)

dbSNP: rs72554332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079083 SCV000228900 pathogenic not provided 2012-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333024 SCV004040800 pathogenic Ornithine carbamoyltransferase deficiency 2023-07-19 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000079083 SCV000115456 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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