ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.235G>T (p.Val79Leu)

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Total submissions: 1
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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 RCV003127353 SCV003803921 pathogenic Developmental disorder 2016-08-22 criteria provided, single submitter clinical testing

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