ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)

dbSNP: rs137852329
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV000066262 SCV002599265 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Decreased activity in red blood cells (1%) (PS3). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).
Genetics and Molecular Pathology, SA Pathology RCV000066262 SCV002761552 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2021-08-09 criteria provided, single submitter clinical testing
OMIM RCV000011125 SCV000031352 other G6PD LOMA LINDA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000066262 SCV000105930 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1990-12-01 no assertion criteria provided literature only

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