ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.387del (p.Gly130fs)

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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 RCV003747689 SCV004543811 pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2023-11-08 criteria provided, single submitter clinical testing

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