ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1060T>C (p.Cys354Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287857 SCV002578124 likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2022-09-27 criteria provided, single submitter clinical testing

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