ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)

gnomAD frequency: 0.00005  dbSNP: rs200259564
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087223 SCV000563065 benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311796 SCV000846744 likely benign Inborn genetic diseases 2016-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000767315 SCV001836195 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496845 SCV002805104 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 2021-08-04 criteria provided, single submitter clinical testing
Seelig Lab, University of Washington RCV000767315 SCV000897880 not provided not provided no assertion provided in vitro

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