ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.118C>T (p.Pro40Ser)

dbSNP: rs1602122138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999403 SCV001156002 likely pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing DDX3X: PM1, PM2, PM5, PP2
Baylor Genetics RCV004563617 SCV005049827 likely pathogenic Intellectual disability, X-linked 102 2024-03-28 criteria provided, single submitter clinical testing

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