Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV001261912 | SCV001439242 | uncertain significance | Gray platelet syndrome | 2020-03-01 | criteria provided, single submitter | research | ACMG criteria: PM2, PP3, PP4 |
ISTH- |
RCV001261912 | SCV002515710 | likely pathogenic | Gray platelet syndrome | no assertion criteria provided | research |