ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.250dup (p.Cys84fs)

dbSNP: rs1592117677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027555 SCV001190125 pathogenic Combined immunodeficiency 2019-01-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027556 SCV001190126 pathogenic Immunodeficiency 2019-01-01 criteria provided, single submitter research

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