ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) (rs150900695)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124227 SCV000167648 benign not specified 2013-09-30 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.
Invitae RCV000552475 SCV000639477 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2017-07-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711157 SCV000841487 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717649 SCV000848503 benign History of neurodevelopmental disorder 2016-12-16 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124227 SCV000857091 benign not specified 2017-10-05 criteria provided, single submitter clinical testing

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