ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.582C>A (p.Ile194=)

dbSNP: rs200564773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521502 SCV001730859 benign Ornithine carbamoyltransferase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001521502 SCV004357051 likely benign Ornithine carbamoyltransferase deficiency 2022-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948552 SCV004759647 likely benign OTC-related disorder 2019-04-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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