ClinVar Miner

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

Included ClinVar conditions (2):
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
85 135 201 64 38 1 502

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYSF 84 134 201 64 38 1 500
CAPN3 0 1 0 0 0 0 1
LMNA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 17 1 134 49 37 0 238
Counsyl 41 66 57 15 0 0 179
Myriad Women's Health, Inc. 1 39 0 0 0 0 40
Broad Institute Rare Disease Group, Broad Institute 4 10 10 0 0 0 24
OMIM 16 0 0 0 0 0 16
Fulgent Genetics,Fulgent Genetics 5 3 3 0 0 0 11
Athena Diagnostics Inc 7 1 0 0 1 0 9
Mendelics 0 0 3 2 2 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 1 0 0 0 7
GeniaGeo, Laboratorio Genia 4 2 0 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 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Belal Azab Laboratory,The University of Jordan 3 0 0 0 0 0 3
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 0 0 0 0 0 2
Laboratory of Medical Genetics,Tor Vergata University 1 1 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 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

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