Submissions for variant NM_001875.5(CPS1):c.2830-18A>G

gnomAD frequency: 0.02004  dbSNP: rs116664530

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124593	SCV000168026	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.
PreventionGenetics, part of Exact Sciences	RCV000124593	SCV000308498	benign	not specified		criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000624936	SCV000743142	benign	Congenital hyperammonemia, type I	2016-05-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000624936	SCV001733375	benign	Congenital hyperammonemia, type I	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004708004	SCV005241027	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000124593	SCV001916994	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000124593	SCV002037549	benign	not specified		no assertion criteria provided	clinical testing