ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.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
PreventionGenetics,PreventionGenetics RCV000248100 SCV000308503 benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624938 SCV000743144 likely benign Congenital hyperammonemia, type I 2015-05-18 criteria provided, single submitter clinical testing

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