ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter)

dbSNP: rs312262697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Richard Lifton Laboratory, Yale University School of Medicine RCV000122611 SCV000155118 probable-pathogenic Atypical hemolytic-uremic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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