ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.295C>A (p.Pro99Thr) (rs140999077)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000279135 SCV000426813 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732850 SCV000860845 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing

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