ClinVar Miner

Submissions for variant NM_000531.5:c.(386+1_387-1)_(1005+1_1006-1)del

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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 RCV001201166 SCV001194254 pathogenic Ornithine carbamoyltransferase deficiency no assertion criteria provided clinical testing 1 girl with a neonatal form

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