ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) (rs786204963)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622992 SCV000742046 likely pathogenic Inborn genetic diseases 2016-12-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
RettBASE RCV000169988 SCV000222293 likely pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation Highly conserved residue, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65); not in normal population

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