ClinVar Miner

Variants studied for Muscular dystrophy, limb-girdle, autosomal recessive 23

Coded as:
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 total
23 22 15 2 12 72

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LAMA2 22 19 15 2 12 68
TRAPPC11 1 1 0 0 0 2
ARHGAP18, LAMA2, TMEM244 1 0 0 0 0 1
L1CAM 0 1 0 0 0 1
LAMA2, LOC126859784 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Neuberg Centre For Genomic Medicine, NCGM 3 5 5 0 0 13
Genome-Nilou Lab 0 0 0 0 12 12
OMIM 4 0 0 0 0 4
MGZ Medical Genetics Center 1 2 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 3 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 1 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 2 0 0 2
3billion, Medical Genetics 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Pars Genome Lab 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1
Institute for Molecular Bioscience, The University of Queensland 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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