ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) (rs56142348)

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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 RCV000720470 SCV000851347 likely benign Seizures 2016-11-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000186611 SCV000612735 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724570 SCV000230960 uncertain significance not provided 2015-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000186611 SCV000167713 benign not specified 2013-09-27 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.
Invitae RCV000535923 SCV000658065 benign Autosomal dominant nocturnal frontal lobe epilepsy 2017-02-23 criteria provided, single submitter clinical testing

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