ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) (rs756986206)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193613 SCV000246935 benign not specified 2018-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725404 SCV000336724 uncertain significance not provided 2015-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719380 SCV000850246 likely benign History of neurodevelopmental disorder 2016-10-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001078805 SCV001001377 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing

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