ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)

dbSNP: rs137852347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV000066276 SCV002599251 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in three hemizygous borthers with deficiency and CNSHA, inherited from heterozygous mother (PP1, PP4). Undetectable activity in red blood cells of hemizygotes (PS3). Not found in gnomAD (PM2). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
OMIM RCV000011158 SCV000031385 other G6PD REHOVOT 2000-12-01 no assertion criteria provided literature only
OMIM RCV000066276 SCV005374547 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2000-12-01 no assertion criteria provided literature only

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