ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter)

dbSNP: rs1554814266
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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 RCV000677711 SCV000803863 likely pathogenic Cohen syndrome 2014-03-20 criteria provided, single submitter clinical testing

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