ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.1052del (p.Lys351fs)

dbSNP: rs2068592875
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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 RCV001170077 SCV001281637 pathogenic Ornithine carbamoyltransferase deficiency no assertion criteria provided clinical testing 1 girl with a paroxysmal form

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