Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dunham Lab, |
RCV000066262 | SCV002599265 | 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 (1%) (PS3). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1). |
Genetics and Molecular Pathology, |
RCV000066262 | SCV002761552 | likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2021-08-09 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000011125 | SCV000031352 | other | G6PD LOMA LINDA | 2017-05-24 | no assertion criteria provided | literature only | |
OMIM | RCV000066262 | SCV000105930 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1990-12-01 | no assertion criteria provided | literature only |