ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) (rs137852320)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000294855 SCV000883927 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000294855 SCV000331230 pathogenic not provided 2016-01-04 criteria provided, single submitter clinical testing
OMIM RCV000011096 SCV000031323 other G6PD IOWA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011097 SCV000031324 other G6PD IOWA CITY 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011098 SCV000031325 other G6PD SPRINGFIELD 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011099 SCV000031326 other G6PD WALTER REED 2017-05-24 no assertion criteria provided literature only

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