ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) (rs2229960)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715284 SCV000846112 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576823 SCV000677246 benign Epilepsy, nocturnal frontal lobe, type 1 2017-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079311 SCV000111181 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079311 SCV000150688 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.
PreventionGenetics RCV000079311 SCV000305463 benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.