ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.768_769dup (p.Gln257fs) (rs1567887004)

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
Mendelics RCV000989928 SCV001140663 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992528 SCV001144919 pathogenic not provided 2018-09-10 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

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.