Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dunham Lab, |
RCV002305425 | SCV002599183 | likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in hemizygotes with G6PD deficiency, some with anemia, favism, and jaundice (PP4). Decreased activity in red blood cells of hemizygotes (6-60%) (PS3). Variant and phenotype inheritance from mother to son recorded in two families (PP1), and also identified in unrelated individuals (PS4_M). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1). |
OMIM | RCV000011075 | SCV000031301 | pathogenic | G6PD deficiency | 2000-03-31 | no assertion criteria provided | literature only |