ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1230+5G>A

dbSNP: rs1553282723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578651 SCV000681068 pathogenic not provided 2020-11-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 30377382)
The Raphael Recanati Genetics Institute, Rabin Medical Center RCV000754785 SCV000882667 likely pathogenic Developmental and epileptic encephalopathy, 54 2018-09-13 no assertion criteria provided clinical testing
GenomeConnect - Brain Gene Registry RCV004545789 SCV002760035 not provided HNRNPU-related disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 11/6/2020 by Lab or GTR ID 26957. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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