ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.146-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466313 SCV002761268 pathogenic Developmental and epileptic encephalopathy, 2 2022-02-03 criteria provided, single submitter clinical testing

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