ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.554+1G>A (rs1555950083)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578286 SCV000680166 likely pathogenic Early infantile epileptic encephalopathy 2 2017-09-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727374 SCV000707981 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000578286 SCV001245188 pathogenic Early infantile epileptic encephalopathy 2 2020-02-14 criteria provided, single submitter clinical testing

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