ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.621C>T (p.Ser207=) (rs72558415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000320040 SCV000482294 likely benign Ornithine carbamoyltransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719592 SCV000850461 benign History of neurodevelopmental disorder 2017-01-31 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000975523 SCV001123409 benign not provided 2018-11-20 criteria provided, single submitter clinical testing

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