ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.298C>T (p.Arg100Ter)

dbSNP: rs780775497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000505239 SCV000599274 likely pathogenic Intellectual disability, X-linked 30 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001785643 SCV002028016 pathogenic not provided 2021-11-15 criteria provided, single submitter clinical testing 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; No data available from control populations to assess the frequency of this variant; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31836586)

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