ClinVar Miner

Variants studied for frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
60 20 200 112 29 1 409

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TBK1 60 19 200 112 29 1 408
KIF5A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 46 9 190 109 29 0 383
OMIM 8 0 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 2 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Neurogenetics, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Taipei Veterans General Hospital, Neurological Institute 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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.