Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
H3Africa Consortium | RCV001777169 | SCV002014645 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.917, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
Fujian Institute of Hematology, |
RCV000509077 | SCV000577913 | pathogenic | Acute myeloblastic leukemia with maturation | no assertion criteria provided | case-control | This variant contributes to development of AML-M2 |