ClinVar Miner

Variants studied for autosomal recessive limb-girdle muscular dystrophy type 2B

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 not provided total
120 213 435 107 62 4 897

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYSF 117 211 431 106 61 4 889
DYSF, LOC122787137 1 1 4 1 1 0 5
CAPN3 0 1 0 0 0 0 1
DYSF, LOC122787136 1 0 0 0 0 0 1
LMNA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 47 8 336 91 48 0 530
Counsyl 40 66 56 15 0 0 177
Myriad Genetics, Inc. 2 92 3 0 0 0 97
Fulgent Genetics, Fulgent Genetics 15 9 28 1 0 0 53
Genome-Nilou Lab 0 0 18 2 20 0 40
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 10 11 0 0 0 26
Neuberg Centre For Genomic Medicine, NCGM 1 10 11 0 0 0 22
OMIM 16 0 0 0 0 0 16
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University 7 0 4 0 0 0 11
MGZ Medical Genetics Center 2 4 4 0 0 0 10
Athena Diagnostics Inc 7 1 0 0 1 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 5 1 0 0 0 9
Mendelics 0 0 3 2 2 0 7
GeniaGeo, Laboratorio Genia 4 2 0 0 0 0 6
3billion 2 3 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 0 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 2 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 3
James R Lupski Laboratory, Baylor College Of Medicine 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 0 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
Laboratory of Medical Genetics, Tor Vergata University 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Genetic Research, Kawsar Human Genetics Research Center 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
Genetic Laboratory, Progenet 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.