ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) (rs137852317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790772 SCV000225262 pathogenic not provided 2013-10-18 criteria provided, single submitter clinical testing
OMIM RCV000011091 SCV000031318 other G6PD SANTIAGO DE CUBA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000066233 SCV000105926 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1989-07-25 no assertion criteria provided literature only

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