ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) (rs61753977)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000721037 SCV000851921 benign History of neurodevelopmental disorder 2017-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000145515 SCV000722301 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000145515 SCV000192603 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000469300 SCV000558805 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2016-08-06 criteria provided, single submitter clinical testing
RettBASE RCV000145515 SCV000188331 benign not specified 2014-05-09 no assertion criteria provided curation Benign variation, found in normal male relative; in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = benign, AlignGVGD = pathogenic (C65)

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