Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hospital of the University of Pennsylvania, |
RCV000203465 | SCV000258464 | pathogenic | Myelodysplastic syndrome progressed to acute myeloid leukemia | 2016-01-08 | criteria provided, single submitter | clinical testing | A mutation that is commonly seen in myelodysplasia with ring sideroblasts. It affects 3'-splice site recognition during pre-mRNA processing. |
Fulgent Genetics, |
RCV000431140 | SCV002785053 | likely pathogenic | Myelodysplastic syndrome | 2021-10-10 | criteria provided, single submitter | clinical testing | |
Database of Curated Mutations |
RCV000431140 | SCV000504636 | not provided | Myelodysplastic syndrome | 2016-03-10 | no assertion provided | literature only | |
Database of Curated Mutations |
RCV000441310 | SCV000504637 | likely pathogenic | Acute myeloid leukemia | 2014-10-02 | no assertion criteria provided | literature only |