Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000991017 | SCV001020143 | likely benign | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000991017 | SCV001142111 | uncertain significance | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227031 | SCV002506263 | uncertain significance | not provided | 2022-02-24 | criteria provided, single submitter | clinical testing | |
Dunham Lab, |
RCV000991017 | SCV002599191 | 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 of hemizygotes (21-25%) (PS3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1). |
OMIM | RCV000011082 | SCV000031309 | other | G6PD ILESHA | 2017-05-24 | no assertion criteria provided | literature only |