ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.632A>T (p.Asp211Val) (rs5030872)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507037 SCV000603768 pathogenic not provided 2018-01-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000507037 SCV000231600 pathogenic not provided 2012-11-05 criteria provided, single submitter clinical testing
OMIM RCV000030892 SCV000031378 other G6PD MALAGA 2017-05-24 no assertion criteria provided literature only

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