ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) (rs371603866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194690 SCV000246936 uncertain significance not specified 2015-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715725 SCV000846556 likely benign History of neurodevelopmental disorder 2016-05-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000869220 SCV001010632 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing

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