ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)

gnomAD frequency: 0.00010  dbSNP: rs201340295
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001302571 SCV001491785 likely benign Congenital hyperammonemia, type I 2024-10-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001302571 SCV002076250 uncertain significance Congenital hyperammonemia, type I 2020-05-27 no assertion criteria provided clinical testing

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