ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.4584T>G (p.Tyr1528Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004764513 SCV005374001 likely pathogenic Intellectual disability, autosomal dominant 52 2024-09-22 criteria provided, single submitter clinical testing

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