ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)

gnomAD frequency: 0.00014  dbSNP: rs139740322
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001279828 SCV002116423 likely benign Congenital hyperammonemia, type I 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279828 SCV001466958 uncertain significance Congenital hyperammonemia, type I 2020-04-16 no assertion criteria provided clinical testing

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