ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)

dbSNP: rs1602131859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824883 SCV000965792 likely pathogenic Intellectual disability, X-linked 102 2016-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001836903 SCV002097479 pathogenic not provided 2022-01-27 criteria provided, single submitter clinical testing Frameshift 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32135084)
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV003389064 SCV004101176 likely pathogenic Neurodevelopmental disorder 2022-11-08 criteria provided, single submitter clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV000824883 SCV003927925 pathogenic Intellectual disability, X-linked 102 2023-04-01 no assertion criteria provided clinical testing

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