ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu)

dbSNP: rs1569214324
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679941 SCV000807375 uncertain significance Developmental and epileptic encephalopathy, 2 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 3-year-old female with global delays, hypotonia, epilepsy, hyperextensibility, failure to thrive.

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