ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)

dbSNP: rs148605410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043570 SCV000071440 risk factor AHUS, SUSCEPTIBILITY TO, 7 2013-05-01 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000122612 SCV000155119 probable-pathogenic Atypical hemolytic-uremic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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