ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003988695 SCV004804804 pathogenic Intellectual disability, X-linked 102 2024-01-15 criteria provided, single submitter clinical testing

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