ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.894G>A (p.Trp298Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287631 SCV002577737 likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting

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