ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.904C>T (p.Leu302Phe) (rs267608547)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000133392 SCV000188407 uncertain significance Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation In silico prediction: SIFT = tolerated, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0), no parental screening results

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