ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) (rs137852337)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723442 SCV000700390 pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000723442 SCV000883926 likely pathogenic not provided 2017-07-23 criteria provided, single submitter clinical testing
OMIM RCV000011138 SCV000031365 other G6PD PAWNEE 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011139 SCV000031366 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2017-05-24 no assertion criteria provided literature only

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