Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Thalassemia Center, |
RCV000186403 | SCV004176767 | pathogenic | Primary hyperoxaluria, type I | 2023-10-27 | criteria provided, single submitter | clinical testing | ACMG:PVS1 PM1 PM2 PM4 |
Clinical Biochemistry Laboratory, |
RCV000186403 | SCV000239753 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |