ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.1567-4A>G

dbSNP: rs369562300
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614983 SCV000711213 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing c.1567-4A>G in intron 17 of TMC1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/66740 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369562300).

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.