ClinVar Miner

Variants studied for LAMA2-related muscular dystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
589 555 1204 2438 157 18 4726

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LAMA2 566 540 1162 2364 152 16 4571
LAMA2, LOC123864065 14 10 27 51 5 2 104
LAMA2, LOC126859784 7 3 14 23 0 0 46
TRAPPC11 1 1 0 0 0 0 2
ARHGAP18, LAMA2, TMEM244 1 0 0 0 0 0 1
L1CAM 0 1 0 0 0 0 1
LAMA1 0 0 1 0 0 0 1
LAMA2, LOC123864065, LOC126859783, LOC126859784 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 514 119 1056 2416 153 0 4258
Baylor Genetics 78 122 20 0 0 0 220
Fulgent Genetics, Fulgent Genetics 37 65 68 7 3 0 180
Counsyl 19 74 64 20 0 0 177
Myriad Genetics, Inc. 6 165 3 0 0 0 174
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 16 0 0 0 0 48
3billion 25 7 10 0 0 0 42
Neuberg Centre For Genomic Medicine, NCGM 4 11 11 0 0 0 26
Mendelics 17 3 0 1 3 0 24
Department of Pathology and Laboratory Medicine, Sinai Health System 3 4 15 0 1 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 3 5 0 0 0 17
OMIM 14 0 0 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 11 0 12
Genome-Nilou Lab 0 0 0 0 12 0 12
GenomeConnect, ClinGen 0 0 0 0 0 11 11
Kariminejad - Najmabadi Pathology & Genetics Center 6 3 2 0 0 0 11
Athena Diagnostics 0 0 0 0 10 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 7 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 3 0 0 0 8
New York Genome Center 0 2 6 0 0 0 8
MGZ Medical Genetics Center 3 3 1 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 2 0 0 1 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 1 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 0 0 0 0 0 6
GeneReviews 1 0 0 0 0 4 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 0 1 0 0 0 5
Breda Genetics srl, Breda Genetics srl 1 2 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 3 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 2 2 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Department of Medical Genetics, National Institute of Health 2 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 1 0 0 3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 3 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Dr. Oladnabi Research Group, Golestan University of Medical Sciences 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 1 0 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 1 0 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute for Molecular Bioscience, The University of Queensland 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1

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