Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669926 | SCV000794726 | likely pathogenic | Primary hyperoxaluria, type I | 2017-10-16 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000669926 | SCV004217829 | pathogenic | Primary hyperoxaluria, type I | 2023-10-27 | criteria provided, single submitter | curation | ACMG:PVS1 PM2 PM3 PP4 |