ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) (rs113080067)

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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 RCV000717605 SCV000848458 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
Athena Diagnostics Inc RCV000711164 SCV000841494 benign not provided 2017-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000432875 SCV000512606 likely benign not specified 2018-03-08 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 RCV000459133 SCV000563060 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2016-11-02 criteria provided, single submitter clinical testing

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