ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)

dbSNP: rs1057518975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414805 SCV000493047 uncertain significance Hemolytic anemia; Decreased glucosephosphate isomerase level 2014-01-14 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002305484 SCV002599414 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with deficiency (PP4). Not found in gnomAD (PM2). Post_P 0.500 (odds of pathogenicity 9.01, Prior_P 0.1).

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