Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV002249490 | SCV000928353 | likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies | 2018-05-07 | criteria provided, single submitter | clinical testing | PS2, PM2,PP2,PP3 |