Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000852187 | SCV000899860 | likely pathogenic | Gray platelet syndrome | 2020-03-01 | criteria provided, single submitter | research | ACMG criteria: PM2, PM3, PP3, PP4 |