ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1173del (p.Phe392fs) (rs1235665641)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267295 SCV001445476 pathogenic Inborn genetic diseases 2018-06-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000722954 SCV001476052 likely pathogenic not provided 2019-12-31 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.
Gharavi Laboratory,Columbia University RCV000722954 SCV000854085 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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.