ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3928-9_3928-8del (rs397703682)

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Total submissions: 2
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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

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