ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter)

dbSNP: rs1411448554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268653 SCV001447735 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331007 SCV001522898 pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2019-01-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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