ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) (rs61749700)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012252 SCV000032486 pathogenic Early infantile epileptic encephalopathy 2 2004-12-01 no assertion criteria provided literature only
RettBASE RCV000133372 SCV000188386 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation In vitro study (Ricciardi et al 2009) shows abnormal nuclear speckles; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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