ClinVar Miner

Variants in gene DYSF

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Minimum submission review status: Collection method:
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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
209 105 623 192 92 2 1026

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 164 25 447 12 13 0 649
Dysferlinopathy 35 8 142 54 52 1 289
Limb-girdle muscular dystrophy, type 2B 93 77 58 15 0 0 234
not specified 0 0 28 137 78 0 194
Limb-Girdle Muscular Dystrophy, Recessive 0 0 83 15 5 0 103
Miyoshi myopathy 0 0 83 15 5 0 103
Miyoshi muscular dystrophy 1 62 5 0 0 0 0 65
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 5 4 4 0 1 0 14
Myopathy, distal, with anterior tibial onset 7 0 0 0 0 0 7
Muscular dystrophy 0 1 1 0 0 0 2
DYSF- Related Disorder 0 0 0 0 0 1 1
DYSF-Related Disorders 1 0 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
Inborn genetic diseases 0 0 0 0 1 0 1
Muscle weakness; Arthralgia; Myalgia; EMG: myopathic abnormalities 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1
Proximal muscle weakness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 155 11 430 17 61 0 674
Invitae 34 7 136 54 52 0 283
GeneDx 25 6 34 84 51 0 200
Counsyl 36 60 57 15 0 0 168
Illumina Clinical Services Laboratory,Illumina 3 1 91 15 5 0 115
Athena Diagnostics Inc 22 2 34 11 15 0 84
PreventionGenetics 0 0 0 24 51 0 75
Genetic Services Laboratory, University of Chicago 1 0 4 29 0 0 34
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 0 22 0 24
OMIM 22 0 0 0 0 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 12 3 0 0 20
Fulgent Genetics 5 3 3 0 0 0 11
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 3 1 0 0 0 6
Genetic Diseases Diagnostic Center,Koc University Hospital 0 4 0 0 0 0 4
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 2 0 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
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, Oman 3 0 0 0 0 0 3
Blueprint Genetics, 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 1 0 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Claritas Genomics 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 1 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1

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