ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs)

dbSNP: rs786204964
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000169991 SCV000222296 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation

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