ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter)

dbSNP: rs2147348697
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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, University of Leipzig Medical Center RCV001785393 SCV002026423 pathogenic Intellectual disability, X-linked 102 2022-05-27 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PM2_SUP, PS2_MOD

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