ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.1400A>C (p.His467Pro) (rs267608631)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000133324 SCV000188333 uncertain significance Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation

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