Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV003581944 | SCV004244571 | likely pathogenic | Familial hypercholesterolemia | 2023-12-19 | criteria provided, single submitter | clinical testing | PVS1, PM2 |