ClinVar Miner

Submissions for variant NM_007375.3(TARDBP):c.198T>C (p.Ala66=) (rs61730366)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516412 SCV000615748 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625045 SCV000744937 likely benign Amyotrophic lateral sclerosis type 10 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625045 SCV000743618 benign Amyotrophic lateral sclerosis type 10 2014-10-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625045 SCV000745748 likely benign Amyotrophic lateral sclerosis type 10 2015-12-29 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320654 SCV000347104 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384501 SCV000347105 likely benign Frontotemporal dementia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000646151 SCV000767909 benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2017-12-29 criteria provided, single submitter 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.