ClinVar Miner

Submissions for variant G6PD A-

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305425 SCV002599183 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with G6PD deficiency, some with anemia, favism, and jaundice (PP4). Decreased activity in red blood cells of hemizygotes (6-60%) (PS3). Variant and phenotype inheritance from mother to son recorded in two families (PP1), and also identified in unrelated individuals (PS4_M). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
OMIM RCV000011075 SCV000031301 pathogenic G6PD deficiency 2000-03-31 no assertion criteria provided literature only

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