ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) (rs138924661)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Precision Medicine,Vanderbilt University Medical Center RCV000760165 SCV000889982 pathogenic Nephrotic syndrome, type 7 2018-03-16 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197380 SCV001368100 pathogenic Proteinuria; Focal segmental glomerulosclerosis; Chronic kidney disease 2019-06-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in homozygous state.
OMIM RCV000043567 SCV000071437 risk factor Hemolytic uremic syndrome, atypical, susceptibility to, 7 2013-05-01 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000122617 SCV000155124 probable-pathogenic Atypical hemolytic uremic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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