ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.3916C>T (p.Arg1306Ter)

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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 RCV004776529 SCV005387892 pathogenic Intellectual disability, autosomal dominant 52 2024-02-19 criteria provided, single submitter clinical testing

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