ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.447del (p.Lys150fs)

dbSNP: rs1906529223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences RCV001250397 SCV001147000 pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 criteria provided, single submitter research

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