ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468449 SCV004214295 likely pathogenic Congenital myasthenic syndrome 4A 2022-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021995 SCV005644256 likely pathogenic Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2024-05-15 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.