ClinVar Miner

Variants studied for Limb-girdle muscular dystrophy, type 2B

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
107 77 58 15 0 247

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
DYSF 107 77 58 15 247

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Counsyl 36 60 57 15 168
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 63 2 0 0 65
OMIM 16 0 0 0 16
Athena Diagnostics Inc 10 2 0 0 12
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 3 1 0 6
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 2 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 3
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Sema4,Sema4 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 1

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