Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, |
RCV000186489 | SCV004171792 | likely pathogenic | Primary hyperoxaluria type 3 | 2023-10-27 | criteria provided, single submitter | clinical testing | ACMG:PM2 PM3 PP3 PP4 |
Clinical Biochemistry Laboratory, |
RCV000186489 | SCV000239851 | pathogenic | Primary hyperoxaluria type 3 | 2014-11-27 | no assertion criteria provided | research | prediction |