ClinVar Miner

Variants studied for bulbospinal muscular atrophy

Included ClinVar conditions (12):
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
118 69 340 371 51 7 903

Gene and significance breakdown #

Total genes and gene combinations: 16
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VRK1 61 27 147 248 13 1 476
EXOSC3 28 11 64 104 10 2 203
SEPSECS 5 14 87 8 18 0 126
TSEN54 7 5 14 0 6 1 30
TSEN2 7 6 13 0 1 1 26
EXOSC3, LOC130001814 2 0 3 9 1 0 15
EXOSC8 2 2 5 1 1 1 10
TSEN34 1 1 2 0 0 1 4
LOC129992330, SEPSECS 1 0 1 1 0 0 3
TSEN15 3 1 1 0 0 0 3
EXOSC8, LOC130009581 0 0 2 0 0 0 2
CHMP1A 0 1 0 0 0 0 1
CLN5 0 1 0 0 0 0 1
LOC112533671, TSEN54 0 0 0 0 1 0 1
LOC130056407, VRK1 0 0 1 0 0 0 1
PCCA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 20 162 356 18 0 641
Illumina Laboratory Services, Illumina 1 1 99 11 25 0 137
Natera, Inc. 1 3 72 10 11 0 97
Fulgent Genetics, Fulgent Genetics 6 11 20 2 1 0 40
OMIM 23 0 0 0 0 0 23
Baylor Genetics 5 4 13 0 0 0 22
Genetic Services Laboratory, University of Chicago 6 3 7 0 0 0 16
Genome-Nilou Lab 0 0 1 0 14 0 15
Revvity Omics, Revvity 3 2 9 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 3 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 4 0 0 0 7
GeneReviews 1 0 0 0 0 5 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 4 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 0 5
MGZ Medical Genetics Center 3 0 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 1 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 3 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 1 1 0 0 0 0 2
Clinical Genetics, University of Leipzig 1 1 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Counsyl 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 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.