ClinVar Miner

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

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Minimum submission review status: Collection method:
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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
76 91 69 17 2 245

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 benign total
DYSF 76 91 69 17 2 245

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 42 66 57 15 0 180
Broad Institute Rare Disease Group,Broad Institute 4 10 10 0 0 24
OMIM 16 0 0 0 0 16
Athena Diagnostics Inc 10 1 0 0 0 11
Mendelics 0 0 3 2 2 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 1 0 0 6
GeniaGeo, Laboratorio Genia 4 2 0 0 0 6
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 2 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 3
Belal Azab Laboratory,The University of Jordan 3 0 0 0 0 3
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Genetic Research,Kawsar Human Genetics Research Center 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 1

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