Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668309 | SCV000792887 | uncertain significance | Primary hyperoxaluria, type II | 2017-07-31 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000668309 | SCV004174331 | likely pathogenic | Primary hyperoxaluria, type II | 2023-10-27 | criteria provided, single submitter | curation | ACMG: PVS1PM2 |