Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263729 | SCV001441822 | likely pathogenic | Primary hyperoxaluria, type I | 2019-12-28 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001263729 | SCV002023815 | pathogenic | Primary hyperoxaluria, type I | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV001263729 | SCV004217783 | pathogenic | Primary hyperoxaluria, type I | 2023-10-27 | criteria provided, single submitter | curation | ACMG:PVS1 PM2 PP5 |