ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.1548C>T (p.Ser516=) (rs145304925)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186666 SCV000111973 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000186666 SCV000171913 benign not specified 2012-02-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000334445 SCV000477262 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470734 SCV000558522 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000186666 SCV000597313 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718653 SCV000849517 likely benign History of neurodevelopmental disorder 2016-07-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610135 SCV000734641 likely benign Early infantile epileptic encephalopathy 4 no assertion criteria provided clinical testing

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