ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.486T>C (p.Tyr162=) (rs138779023)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000374734 SCV000744161 likely benign Congenital hyperammonemia, type I 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000185813 SCV000238759 benign not specified 2014-08-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000374734 SCV000426815 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000374734 SCV000777148 benign Congenital hyperammonemia, type I 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000185813 SCV000308507 likely benign not specified criteria provided, single submitter clinical testing

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