ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.517C>G (p.Leu173Val) (rs1131692152)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495847 SCV000579475 pathogenic Ornithine carbamoyltransferase deficiency 2017-04-25 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genomes and is likely to be pathogenic by In Silico analysis using Mutation Taster, SIFT and Polyphen2.

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