ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.147C>T (p.Thr49=)

gnomAD frequency: 0.00001  dbSNP: rs144153859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515101 SCV001723099 benign Ornithine carbamoyltransferase deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001587448 SCV001822964 likely benign not provided 2018-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001515101 SCV002087163 likely benign Ornithine carbamoyltransferase deficiency 2020-02-12 no assertion criteria provided clinical testing

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