ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3928-9_3928-8del

dbSNP: rs397703682
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493048 SCV000581693 benign not specified 2018-01-18 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 RCV000624937 SCV000743143 likely benign Congenital hyperammonemia, type I 2015-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000624937 SCV001723918 benign Congenital hyperammonemia, type I 2025-02-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701021 SCV001922394 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701021 SCV001930997 likely benign not provided no assertion criteria provided clinical testing

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