ClinVar Miner

Variants in gene GRN

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 affects risk factor not provided total
66 10 101 52 29 1 1 86 271

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
not provided 20 6 20 22 13 0 0 86 143
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 33 0 32 17 15 0 0 0 92
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 17 1 38 19 12 0 0 0 86
Seizures 0 0 20 11 6 0 0 0 37
Frontotemporal dementia 15 2 3 0 0 0 0 0 20
not specified 0 0 1 4 10 0 0 0 14
Ceroid lipofuscinosis, neuronal, 11 2 0 2 0 0 0 0 0 4
Primary progressive aphasia 4 0 0 0 0 0 0 0 4
Alzheimer disease 0 1 0 0 0 0 0 0 1
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 0 1
Ischemic stroke, susceptibility to 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Invitae 17 1 35 29 13 0 0 0 95
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 0 0 86 86
Illumina Clinical Services Laboratory,Illumina 0 0 32 17 7 0 0 0 56
Athena Diagnostics Inc 16 4 6 2 21 0 0 0 49
Ambry Genetics 0 0 20 11 6 0 0 0 37
OMIM 18 0 0 0 0 0 1 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 5 3 6 2 0 0 0 0 16
Institute of Human Genetics, Klinikum rechts der Isar 14 0 0 0 0 0 0 0 14
Human Genetics Group at Institute of Prion Diseases London,University College London 9 3 0 0 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 3 5 0 0 0 10
GeneDx 3 0 3 0 2 0 0 0 8
PreventionGenetics, PreventionGenetics 0 0 0 3 4 0 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 2 0 0 0 6
Translational Genetics in Neurodegenerative disease,Karolinska Institutet 6 0 0 0 0 0 0 0 6
Mendelics 2 0 0 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 1
Laboratory of Clinical and Experimental Pathology,Xuzhou Medical University 0 0 0 0 0 1 0 0 1
New York Genome Center 1 0 0 0 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.