ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) (rs1044394)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116723 SCV000305472 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116723 SCV000331358 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576356 SCV000677252 benign not provided 2017-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715198 SCV000846026 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV001520745 SCV001729924 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116723 SCV000150697 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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