ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.[202G>A;563C>T]

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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 RCV002305806 SCV002599408 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with deficiency (PP4). Decreased activity in red blood cells (4%) (PS3). Post_P 0.812 (odds of pathogenicity 38.9, Prior_P 0.1).

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