ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.528+9A>G

gnomAD frequency: 0.00008  dbSNP: rs369476447
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000293388 SCV000426816 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000603825 SCV000719993 likely benign not specified 2017-06-06 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 RCV000293388 SCV001020102 likely benign Congenital hyperammonemia, type I 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000293388 SCV001452445 uncertain significance Congenital hyperammonemia, type I 2020-01-08 no assertion criteria provided clinical testing

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