ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.404-?_554+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000170039 SCV000222347 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation Protein effect not experimentally verified

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