Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501989 | SCV000595823 | pathogenic | Congenital amegakaryocytic thrombocytopenia | 2016-10-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015227 | SCV000035485 | pathogenic | Myelofibrosis with myeloid metaplasia | 2006-11-15 | no assertion criteria provided | literature only | |
OMIM | RCV000022668 | SCV000043957 | pathogenic | Thrombocythemia 2, somatic | 2006-11-15 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000422740 | SCV000505203 | likely pathogenic | Hematologic neoplasm | 2014-12-26 | no assertion criteria provided | literature only |