ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.534G>A (p.Thr178=)

gnomAD frequency: 0.00012  dbSNP: rs775895740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902764 SCV001047199 likely benign Ornithine carbamoyltransferase deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV002469315 SCV002765863 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Color Diagnostics, LLC DBA Color Health RCV000902764 SCV004357049 likely benign Ornithine carbamoyltransferase deficiency 2022-04-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000902764 SCV002087176 likely benign Ornithine carbamoyltransferase deficiency 2021-01-05 no assertion criteria provided clinical testing

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