ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.1558dup (p.Cys520fs)

dbSNP: rs1582206547
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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 RCV001027664 SCV001190226 likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2019-06-04 criteria provided, single submitter clinical testing

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