ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.4275-10A>G (rs41272673)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000276425 SCV000744168 benign Congenital hyperammonemia, type I 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000185815 SCV000238761 benign not specified 2014-07-10 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000276425 SCV000743145 benign Congenital hyperammonemia, type I 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276425 SCV000426850 likely benign Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000276425 SCV000659353 benign Congenital hyperammonemia, type I 2017-07-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000185815 SCV000308506 benign not specified criteria provided, single submitter clinical testing

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