ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1547T>C (p.Phe516Ser)

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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 RCV004776335 SCV005387618 likely pathogenic Intellectual disability, X-linked 102 2024-07-30 criteria provided, single submitter clinical testing

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