Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dunham Lab, |
RCV002305867 | SCV002599226 | likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Decreased activity in red blood cells (11-33%) (PS3). Neither variantion found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1). |