ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.148G>A (p.Gly50Arg)

gnomAD frequency: 0.00005  dbSNP: rs67486158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027709 SCV001190291 pathogenic Ornithine carbamoyltransferase deficiency 2019-08-09 criteria provided, single submitter clinical testing
Mendelics RCV002247482 SCV002518418 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001027709 SCV003296248 benign Ornithine carbamoyltransferase deficiency 2024-01-07 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083345 SCV000115431 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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