ClinVar Miner

Submissions for variant NM_001122633.3(CPS1):c.-16+12G>A

gnomAD frequency: 0.43006  dbSNP: rs17552879
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124595 SCV000168028 benign not specified 2013-07-25 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625219 SCV000744159 benign Congenital hyperammonemia, type I 2017-05-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625219 SCV001761736 benign Congenital hyperammonemia, type I 2021-07-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000124595 SCV001922313 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000124595 SCV001959492 benign not specified no assertion criteria provided clinical testing

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