ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)

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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 RCV002305800 SCV002599401 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with deficiency (PP4). Below expected carrier frequency in gnomAD (PM2). Post_P 0.500 (odds of pathogenicity 9.01, Prior_P 0.1).

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