ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.1879+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759578 SCV005368259 pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2024-07-03 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2,PS2_MOD

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