ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1032C>T (p.Thr344=) (rs2229589)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000302372 SCV000744163 benign Congenital hyperammonemia, type I 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000302372 SCV000734168 benign Congenital hyperammonemia, type I no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116830 SCV000332071 benign not specified 2015-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000116830 SCV000168022 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.
Genetic Services Laboratory, University of Chicago RCV000116830 SCV000150904 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000302372 SCV000426825 benign Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116830 SCV000308493 benign not specified criteria provided, single submitter clinical testing

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