ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) (rs869312851)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000170064 SCV000222373 uncertain significance Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation This mutation is the deletion of c.678_691, replaced with the inversion of c.673_683; open-reading frame stays the same

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