ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) (rs267608664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089711 SCV001245195 uncertain significance Early infantile epileptic encephalopathy 2 2020-02-14 criteria provided, single submitter clinical testing
RettBASE RCV000133358 SCV000188369 uncertain significance not specified 2014-03-13 no assertion criteria provided curation Paper ambiguous as to carrier status; In silico prediction: SIFT = deleterious, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)

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