ClinVar Miner

Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2A

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 not provided total
292 179 524 646 45 15 1519

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CAPN3 268 171 493 603 41 15 1417
CAPN3, LOC126862115 15 5 26 32 3 0 77
CAPN3, LOC130056921 5 2 5 11 1 0 20
CAPN3, GANC 1 1 0 0 0 0 2
CAPN3, LOC126862115, LOC130056920, LOC130056921 2 0 0 0 0 0 2
CAPN3, LOC130056920, LOC130056921 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 275 49 387 629 36 0 1376
Natera, Inc. 36 5 147 19 16 0 223
Counsyl 22 84 59 5 0 0 170
Illumina Laboratory Services, Illumina 6 4 69 14 6 0 99
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 14 3 0 0 0 30
Genome-Nilou Lab 1 1 11 2 10 0 25
Myriad Genetics, Inc. 3 17 2 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 5 5 7 0 0 0 17
Baylor Genetics 6 3 5 0 0 0 14
Athena Diagnostics Inc 12 1 0 0 1 0 14
MGZ Medical Genetics Center 7 3 3 0 0 0 13
GeneReviews 0 0 0 0 0 13 13
3billion 5 5 2 0 0 0 12
OMIM 10 0 0 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 1 0 0 0 7
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 0 0 0 5
Mendelics 2 0 0 0 2 0 4
Pars Genome Lab 0 0 2 2 0 0 4
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 2 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
Medical Genetic Department, The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 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.