ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs)

dbSNP: rs1135401794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496156 SCV000586749 pathogenic Developmental and epileptic encephalopathy, 54 2017-01-06 criteria provided, single submitter clinical testing Intellectual Disability; epilepsy; microcephaly; left ventricular hypertrophy
Laboratory of Medical Genetics, University of Torino RCV000496156 SCV002774888 likely pathogenic Developmental and epileptic encephalopathy, 54 2022-12-23 criteria provided, single submitter clinical testing

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