ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1430del (p.Ile477fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002306444 SCV002600224 pathogenic Developmental and epileptic encephalopathy, 1 2022-11-13 criteria provided, single submitter clinical testing

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