ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.4528C>T (p.Arg1510Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290158 SCV002579253 likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2021-08-26 criteria provided, single submitter clinical testing

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