ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.66T>C (p.Asn22=)

gnomAD frequency: 0.03018  dbSNP: rs41292019
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530892 SCV000656247 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683590 SCV001903964 benign not provided 2019-08-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625497 SCV000745750 likely benign Glaucoma 1, open angle, P 2016-07-20 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579616 SCV001807905 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579616 SCV001925403 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579616 SCV002037780 benign not specified no assertion criteria provided 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.