ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1441G>A (p.Gly481Ser) (rs111969225)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717099 SCV000847945 likely benign Seizures 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724231 SCV000230957 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000186908 SCV000240479 likely benign not specified 2018-01-23 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.
Invitae RCV000475775 SCV000553230 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2018-01-04 criteria provided, single submitter clinical testing

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