ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) (rs201720797)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000857246 SCV000999833 likely pathogenic Imerslund-Gräsbeck syndrome 2019-03-18 criteria provided, single submitter clinical testing This variant was identified in combination with a second variant in trans in the same gene (CUBN - composite heterozygosity) in a patient with proteinuria and glomerulopathy

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