ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2047-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253408 SCV001429099 likely pathogenic Early infantile epileptic encephalopathy 2 2018-02-28 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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