ClinVar Miner

Variants studied for Ullrich congenital muscular dystrophy 1A

Coded as:
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 total
30 41 61 1 35 162

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL6A3 8 13 27 1 10 57
COL6A2 9 16 18 0 12 53
COL6A1 11 10 16 0 13 48
COL6A3, LOC122889011 2 2 0 0 0 4

Submitter and significance breakdown #

Total submitters: 42
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 35 35
Baylor Genetics 5 2 12 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 2 6 11 0 0 19
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 5 5 1 0 12
3billion 7 3 1 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 5 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 5 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 7 0 0 7
OMIM 4 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 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.