ClinVar Miner

Submissions for variant NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)

dbSNP: rs2466876904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV002286456 SCV003803980 likely pathogenic Snijders blok-fisher syndrome 2021-02-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV002286456 SCV002576310 uncertain significance Snijders blok-fisher syndrome 2019-03-18 no assertion criteria provided clinical testing

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