ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.429T>C (p.Tyr143=) (rs145777402)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242781 SCV000304703 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242781 SCV000523914 benign not specified 2016-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000715595 SCV000846424 benign History of neurodevelopmental disorder 2016-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000872419 SCV001014227 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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