Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dunham Lab, |
RCV002305438 | SCV002599386 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in hemizygote with deficiency and CNSHA (PP4). Decreased activity in red blood cells (18%) (PS3). Deletion of canonical AG 3' acceptor splice site (PVS1) leads to deletion of three amino acids (PM4). Not found in gnomAD (PM2). Post_P 0.99996 (odds of pathogenicity 255240, Prior_P 0.1). |
OMIM | RCV000011166 | SCV000031393 | other | G6PD VARNSDORF | 2013-04-18 | no assertion criteria provided | literature only |