ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.403+1G>A

dbSNP: rs786204984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV003444105 SCV004171205 pathogenic Developmental and epileptic encephalopathy, 2 2023-11-29 criteria provided, single submitter clinical testing
RettBASE RCV000170038 SCV000222346 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation Disrupts splice site but effect on transcript uncertain

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