Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dunham Lab, |
RCV002305787 | SCV002599375 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in unrelated hemizygotes with deficiency and CNSHA (PS4_M, PP4). In one family, variant segregates with deficiency across multiple generations (PP1). Decreased activity in red blood cells (6-40%) (PS3). Within dimer interface (PM1). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 6568, Prior_P 0.1). |