ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.946T>G (p.Phe316Val)

dbSNP: rs2068545602
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics laboratory, Necker Hospital RCV001089875 SCV001197268 pathogenic Ornithine carbamoyltransferase deficiency no assertion criteria provided clinical testing 2 boys with an infantile form

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