Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dunham Lab, |
RCV002305734 | SCV002599282 | likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in hemizygotes with G6PD deficiency (PP4). Decreased activity in red blood cells (PS3). Below expected carrier frequency in gnomAD (PM2). Predicted to be possibly damaging by PolyPhen and disease causing by Mutation Taster (PP3). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1). |
Revvity Omics, |
RCV002305734 | SCV003828415 | uncertain significance | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2020-03-15 | criteria provided, single submitter | clinical testing |