ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305804 SCV002599405 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Decreased activity in red blood cells (66%) (PS3). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3152, Prior_P 0.1). Post_P 0.89997 (odds of pathogenicity 80.97, Prior_P 0.1).

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