ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.24G>C (p.Ala8=) (rs6089898)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717014 SCV000847859 likely benign Seizures 2016-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186613 SCV000337466 benign not specified 2018-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000186613 SCV000167728 benign not specified 2013-11-01 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 RCV000116721 SCV000150694 uncertain significance not provided 2013-08-27 criteria provided, single submitter clinical testing
Invitae RCV000465763 SCV000563061 benign Autosomal dominant nocturnal frontal lobe epilepsy 2018-01-03 criteria provided, single submitter clinical testing

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