ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.1948del (p.Gly651fs)

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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, University of Goettingen RCV004595732 SCV005077978 likely pathogenic Intellectual disability, autosomal dominant 52 2024-07-17 criteria provided, single submitter clinical testing PVS1_vstrg; PM2_sup

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