Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV003494052 | SCV004242397 | pathogenic | Hyperparathyroidism 2 with jaw tumors | 2023-12-27 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS4_SUP,PM2_SUP |