ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) (rs35478150)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715071 SCV000845895 benign History of neurodevelopmental disorder 2015-06-25 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000145529 SCV000256043 benign not specified 2015-02-13 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145529 SCV000226467 benign not specified 2015-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000145529 SCV000167645 benign not specified 2012-03-23 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 RCV000145529 SCV000192618 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000459993 SCV000558804 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2017-08-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000145529 SCV000309461 benign not specified criteria provided, single submitter clinical testing
RettBASE RCV000145529 SCV000188360 benign not specified 2014-05-15 no assertion criteria provided curation Common polymorphism

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