ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1550-17_1550-13del

gnomAD frequency: 0.00016  dbSNP: rs754222806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486091 SCV000569376 likely benign not specified 2016-03-22 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 RCV002056775 SCV002324590 likely benign Congenital hyperammonemia, type I 2023-11-06 criteria provided, single submitter clinical testing

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