ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) (rs143992148)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169951 SCV000167643 benign not specified 2014-03-19 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 RCV000169951 SCV000192607 likely benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Invitae RCV001088078 SCV000558808 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000169951 SCV000709145 benign not specified 2017-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719669 SCV000850539 benign History of neurodevelopmental disorder 2017-05-17 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000469724 SCV001143521 benign not provided 2019-04-05 criteria provided, single submitter clinical testing
RettBASE RCV000169951 SCV000222251 benign not specified 2014-03-13 no assertion criteria provided curation

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