ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3481-8C>T (rs41272669)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248647 SCV000308500 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304016 SCV000426842 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416013 SCV000493414 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000248647 SCV000518505 likely benign not specified 2017-10-27 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.
Invitae RCV000416013 SCV000659350 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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