ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.598C>T (p.Leu200Phe)

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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 RCV004666687 SCV005094591 uncertain significance Intellectual disability, X-linked 19 2024-05-29 criteria provided, single submitter clinical testing

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