ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)

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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 RCV002305714 SCV002599256 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with G6PD deficiency and jaundice (PP4). Decreased activity in red blood cells (12%) (PS3). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).

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