ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.554+11G>A

gnomAD frequency: 0.00001  dbSNP: rs267608498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002055863 SCV002341668 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-08-24 criteria provided, single submitter clinical testing
RettBASE RCV000144139 SCV000189216 not provided not provided flagged submission not provided
RettBASE RCV000169969 SCV000222271 benign not specified 2014-05-09 no assertion criteria provided curation

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