Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Biochemistry Laboratory, |
RCV000186433 | SCV000239785 | likely benign | Primary hyperoxaluria, type II | 2023-10-27 | criteria provided, single submitter | clinical testing | ACMG: PM1 PM2 BP4 BP5 |