ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3337-79C>T

gnomAD frequency: 0.99993  dbSNP: rs4673540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543260 SCV001761790 benign Congenital hyperammonemia, type I 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655840 SCV001870751 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655840 SCV005241032 benign not provided criteria provided, single submitter not provided

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