ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.135C>T (p.Phe45=)

gnomAD frequency: 0.00108  dbSNP: rs11538420
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877984 SCV001020812 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001569066 SCV001793055 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001569066 SCV004010174 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TBK1: BS1
Breakthrough Genomics, Breakthrough Genomics RCV001569066 SCV005216065 likely benign not provided criteria provided, single submitter not provided

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.