ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser)

dbSNP: rs886044847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285111 SCV000339449 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002305478 SCV002599178 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in heterozygotes with mild G6PD deficiency (PP4). Decreased activity in red blood cells of heterozygotes (40-50%) (PS3). Not observed in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).

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