ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1143C>T (p.Ala381=) (rs75221202)

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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 RCV000717095 SCV000847941 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,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116717 SCV000345287 benign not specified 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000116717 SCV000167712 benign not specified 2013-03-15 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 RCV000116717 SCV000150686 likely benign not specified 2013-08-27 criteria provided, single submitter clinical testing
Invitae RCV000474696 SCV000563062 benign Autosomal dominant nocturnal frontal lobe epilepsy 2017-12-29 criteria provided, single submitter clinical testing

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