Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001543455 | SCV001762033 | pathogenic | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015226 | SCV000035484 | pathogenic | Thrombocythemia 2 | 2009-10-08 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000425381 | SCV000504800 | likely pathogenic | Primary myelofibrosis | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000436519 | SCV000504801 | likely pathogenic | Thrombocythemia 1 | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000418818 | SCV000504802 | likely pathogenic | Myeloproliferative neoplasm | 2014-10-02 | no assertion criteria provided | literature only |