ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)

dbSNP: rs875989803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000211113 SCV000268066 likely pathogenic Intellectual disability, X-linked 102 2015-01-01 criteria provided, single submitter literature only
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000211113 SCV000999350 pathogenic Intellectual disability, X-linked 102 criteria provided, single submitter clinical testing
GeneDx RCV004589906 SCV005078016 pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 36299587, 27159028)

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