ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1359C>T (p.His453=) (rs121912276)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124289 SCV000167716 benign not specified 2013-10-23 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 RCV000456365 SCV000563077 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2017-07-11 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084604 SCV000116740 not provided Tobacco use disorder no assertion provided not provided

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