ClinVar Miner

Submissions for variant NC_000023.11:g.38369877del

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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 RCV001090186 SCV001193457 pathogenic Ornithine carbamoyltransferase deficiency no assertion criteria provided clinical testing 5 boys with a neonatal form

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