ClinVar Miner

Variants in gene DYSF

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
631 590 1681 2247 295 87 4608

Condition and significance breakdown #

Total conditions: 54
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 464 133 794 2020 142 0 3399
not provided 217 88 783 271 176 1 1406
Autosomal recessive limb-girdle muscular dystrophy type 2B 164 213 587 107 61 0 1070
Miyoshi muscular dystrophy 1 150 120 37 14 50 5 367
Autosomal recessive limb-girdle muscular dystrophy 174 143 16 15 21 0 356
Inborn genetic diseases 0 0 262 10 1 0 273
not specified 0 0 74 126 83 0 239
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 62 69 37 1 0 2 166
DYSF-related disorder 17 5 14 65 4 3 107
Distal myopathy with anterior tibial onset 6 1 20 2 20 0 49
Acute myeloid leukemia 0 0 0 0 0 16 16
Abnormality of the musculature 6 6 0 0 0 0 12
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Cervical cancer 0 0 0 0 0 8 8
Familial cancer of breast 0 0 0 0 0 8 8
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B 1 5 2 0 0 0 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 8 8
Lung cancer 0 0 0 0 0 7 7
Sarcoma 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 6 6
Hepatocellular carcinoma 0 0 0 0 0 5 5
Autosomal recessive DYSF-related disorders 4 0 0 0 0 0 4
Limb-girdle muscular dystrophy 2 1 1 0 0 0 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 4
Thymoma 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Neuromuscular disease caused by qualitative or quantitative defects of dysferlin; Miyoshi myopathy 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 0 0 0 0 0 2 2
Muscular dystrophy 0 1 1 0 0 0 2
Other rare neuromuscular disorders 1 1 0 0 0 0 2
Ovarian cancer 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
See cases 0 0 2 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Miyoshi myopathy 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Distal lower limb muscle weakness 0 1 0 0 0 0 1
Foot dorsiflexor weakness; Peroneal muscle atrophy; Distal lower limb muscle weakness; Absent muscle fiber dysferlin 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Muscle weakness; Arthralgia; Myalgia; EMG: myopathic abnormalities 0 0 1 0 0 0 1
Myopathy 0 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Peripheral neuropathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Proximal muscle weakness 1 0 0 0 0 0 1
Restrictive cardiomyopathy 0 0 1 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 460 121 633 2005 141 0 3360
Natera, Inc. 109 97 483 92 47 0 828
Eurofins Ntd Llc (ga) 154 11 429 17 60 0 671
GeneDx 45 16 129 215 193 0 598
Revvity Omics, Revvity 82 50 373 7 0 0 512
Ambry Genetics 0 0 262 10 1 0 273
Baylor Genetics 140 111 7 0 0 0 257
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen 157 33 13 13 21 0 237
Illumina Laboratory Services, Illumina 7 2 176 18 12 0 215
Athena Diagnostics 30 9 74 25 40 0 178
Counsyl 40 65 56 15 0 0 176
PreventionGenetics, part of Exact Sciences 9 3 11 86 55 0 164
Breakthrough Genomics, Breakthrough Genomics 1 0 8 65 85 0 159
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 25 55 18 12 0 151
Fulgent Genetics, Fulgent Genetics 51 64 31 1 0 0 147
CeGaT Center for Human Genetics Tuebingen 21 9 59 48 9 0 146
Mayo Clinic Laboratories, Mayo Clinic 7 4 56 23 38 0 128
Myriad Genetics, Inc. 7 91 3 0 0 0 101
Genome-Nilou Lab 0 0 23 14 50 0 87
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 73 73
Kariminejad - Najmabadi Pathology & Genetics Center 15 17 14 0 0 0 46
Genetic Services Laboratory, University of Chicago 1 0 7 28 1 0 37
3billion 20 8 8 0 0 0 36
Neuberg Centre For Genomic Medicine, NCGM 6 16 11 0 0 0 32
Clinical Genetics, Academic Medical Center 0 0 0 6 23 0 29
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 10 11 0 0 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 2 0 22 0 26
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 1 22 2 0 26
OMIM 21 0 0 0 0 0 21
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 1 11 0 14
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 13 0 0 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 8 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 6 1 2 0 0 13
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University 9 0 4 0 0 0 13
Jain Foundation 2 9 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 10 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 6 1 0 0 0 10
MGZ Medical Genetics Center 2 4 4 0 0 0 10
Institute of Human Genetics, University of Wuerzburg 1 3 5 0 0 0 9
Mendelics 1 0 3 1 2 0 7
Variantyx, Inc. 6 1 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 2 0 6
Dasa 5 1 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 4 0 0 0 6
GeniaGeo, Laboratorio Genia 4 2 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 1 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 3 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 2 0 2 1 0 0 5
Pars Genome Lab 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 1 0 0 0 0 4
Genetic Diseases Diagnostic Center, Koc University Hospital 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 3 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 1 0 3
Department of Genetics, Sultan Qaboos University Hospital 3 0 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 2 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 0 1 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
James R Lupski Laboratory, Baylor College Of Medicine 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 2 0 0 0 0 0 2
Division of Neurology, Stellenbosch University 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 1 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 1 1 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Genetic Laboratory, Progenet 0 1 0 0 0 0 1
Genetic Research, Kawsar Human Genetics Research Center 1 0 0 0 0 0 1
Genetics Research Group, Universidad San Francisco de Quito 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, Federal State Budgetary Educational Institution of Higher Education, Saint Petersburg State Pediatric Medical University of the Ministry of Health of the Russian Federation 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 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
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 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

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