ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1230+5G>A (rs1553282723)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578651 SCV000681068 likely pathogenic not provided 2017-11-09 criteria provided, single submitter clinical testing The c.1230+5G>A variant in the HNRNPU gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 6, and is expected to cause abnormal gene splicing. The c.1230+5G>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1230+5G>A as a likely pathogenic variant
The Raphael Recanati Genetics Institute,Rabin Medical Center RCV000754785 SCV000882667 likely pathogenic Epileptic encephalopathy, early infantile, 54 2018-09-13 no assertion criteria provided clinical testing

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