ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.556C>T (p.Leu186=)

gnomAD frequency: 0.00001  dbSNP: rs1337833268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521808 SCV001731215 benign Ornithine carbamoyltransferase deficiency 2024-01-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001521808 SCV004824897 likely benign Ornithine carbamoyltransferase deficiency 2023-08-15 criteria provided, single submitter clinical testing

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