ClinVar Miner

Variants studied for Thomsen and Becker disease

Included ClinVar conditions (4):
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 not provided total
219 119 420 521 36 1 10 1265

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
CLCN1 207 112 388 489 35 1 10 1181
CLCN1, LOC123956257 11 7 32 32 1 0 0 83
CLCN1, FAM131B 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 202 70 385 517 31 0 0 1205
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 9 5 0 0 1 0 27
MGZ Medical Genetics Center 12 4 6 0 0 0 0 22
OMIM 20 0 0 0 0 0 0 20
Fulgent Genetics, Fulgent Genetics 9 1 4 5 0 0 0 19
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 7 5 6 0 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 3 0 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 4 3 5 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 4 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 10 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 4 1 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 4 3 1 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 8 8
Mendelics 2 1 2 0 1 0 0 6
Molecular Genetics, Royal Melbourne Hospital 4 0 2 0 0 0 0 6
Baylor Genetics 2 1 3 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 4 1 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 0 4
3billion 3 0 1 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 0 0 0 3
DASA 1 2 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 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 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 2 0 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 1
Laboratory of Molecular Regulation of Neurogenesis, University of Liege 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Arcensus 0 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 0 1

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