Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISTH- |
RCV000211002 | SCV002569914 | likely pathogenic | Thrombocytopenia 6 | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000211002 | SCV000267654 | pathogenic | Thrombocytopenia 6 | 2021-10-12 | no assertion criteria provided | literature only | |
NIHR Bioresource Rare Diseases, |
RCV001003535 | SCV001161862 | likely pathogenic | Primary myelofibrosis; Osteoporosis; Thrombocytopenia | no assertion criteria provided | research |