ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.292-7A>G

dbSNP: rs1554612610
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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 RCV000677709 SCV000803861 likely pathogenic Cohen syndrome 2015-02-16 criteria provided, single submitter clinical testing

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