ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2395dup (p.Val799fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002512477 SCV002822887 likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency criteria provided, single submitter clinical testing

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