ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.299-18C>T

gnomAD frequency: 0.00006  dbSNP: rs5917586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253036 SCV000304700 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610581 SCV001833745 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV003765503 SCV004676528 likely benign Ornithine carbamoyltransferase deficiency 2023-01-17 criteria provided, single submitter clinical testing

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