ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)

dbSNP: rs1050829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002170707 SCV002341235 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-01-16 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002170707 SCV002599184 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency (PP4). Decreased activity in red blood cells of hemizygote (47%) (PS3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).
Revvity Omics, Revvity RCV002170707 SCV004234853 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-04-17 criteria provided, single submitter clinical testing

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