Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics Laboratory, |
RCV005235852 | SCV005881456 | pathogenic | Smith-Magenis syndrome | 2025-03-12 | criteria provided, single submitter | clinical testing | ACMG criteria used: PVS1, PS2_moderate, PM2 |