ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer)

dbSNP: rs1555498120
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677661 SCV000803801 likely pathogenic Poikiloderma with neutropenia 2016-12-08 criteria provided, single submitter clinical testing

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