ClinVar Miner

Variants in gene LAMA2

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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
580 564 1713 2531 278 14 5100

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LAMA2-related muscular dystrophy 486 125 1004 2288 147 4 4040
not provided 120 52 596 249 145 0 1083
Merosin deficient congenital muscular dystrophy 120 216 115 22 24 8 463
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 39 226 86 6 4 0 360
Inborn genetic diseases 10 0 239 30 0 0 279
not specified 0 0 102 137 68 0 274
Congenital muscular dystrophy due to partial LAMA2 deficiency 5 2 194 22 28 0 251
LAMA2-related disorder 9 2 15 63 5 0 94
Muscular dystrophy, limb-girdle, autosomal recessive 23 22 20 18 2 12 0 72
Congenital Muscular Dystrophy, LAMA2-related 4 0 6 2 1 1 14
Abnormality of the musculature 5 7 0 0 0 0 12
Intellectual disability 0 0 2 10 0 0 12
Primary dilated cardiomyopathy 0 1 7 0 0 0 8
Muscular dystrophy 0 0 5 0 0 0 5
See cases 0 1 2 0 0 0 3
Congenital muscular dystrophy 1 1 0 0 0 0 2
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia 1 0 1 0 0 0 2
LAMA2-related muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 0 0 0 2 2
Polymicrogyria 0 0 2 0 0 0 2
Qualitative or quantitative defects of merosin 2 0 0 0 0 0 2
Charcot-Marie-Tooth disease 0 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Hypotonia 0 1 0 0 0 0 1
Muscle dystrophy 0 1 0 0 0 0 1
Muscle tissue disorder 0 0 1 0 0 0 1
Muscular dystrophy, congenital, merosin deficient or partially deficient 1 0 0 0 0 0 1
Proximal muscle weakness 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 480 111 1000 2292 147 0 4030
GeneDx 39 26 170 211 173 0 619
Revvity Omics, Revvity 48 20 344 8 0 0 420
Ambry Genetics 10 0 239 30 0 0 279
Illumina Laboratory Services, Illumina 2 1 200 24 29 0 256
Baylor Genetics 76 118 20 0 0 0 214
Counsyl 19 74 62 20 0 0 175
Fulgent Genetics, Fulgent Genetics 36 64 65 6 3 0 174
PreventionGenetics, part of Exact Sciences 7 2 15 103 46 0 173
Eurofins Ntd Llc (ga) 46 0 82 3 37 0 168
Myriad Genetics, Inc. 1 157 3 0 0 0 161
CeGaT Center for Human Genetics Tuebingen 19 9 37 64 8 0 137
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 14 60 23 5 0 128
Mayo Clinic Laboratories, Mayo Clinic 12 0 112 0 0 0 124
Athena Diagnostics 6 1 48 13 27 0 95
Breakthrough Genomics, Breakthrough Genomics 0 0 11 59 0 0 70
Genetic Services Laboratory, University of Chicago 0 1 25 24 15 0 65
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 2 8 19 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 3 4 21 1 1 0 30
Neuberg Centre For Genomic Medicine, NCGM 4 11 11 0 0 0 26
Clinical Genetics, Academic Medical Center 0 0 0 6 18 0 24
Kariminejad - Najmabadi Pathology & Genetics Center 11 10 2 0 0 0 23
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 20 0 0 23
Mendelics 15 3 0 1 3 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 5 12 4 0 22
3billion 16 3 3 0 0 0 22
OMIM 18 0 0 0 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 3 12 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 4 3 0 0 0 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 7 2 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 10 0 0 12
Genome-Nilou Lab 0 0 0 0 12 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 6 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 9 9
New York Genome Center 0 2 6 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 1 1 0 0 0 8
MGZ Medical Genetics Center 3 3 1 0 0 0 7
Institute of Human Genetics, University of Wuerzburg 2 4 1 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 4 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 2 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 3 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 1 0 0 1 0 6
Genetics and Genomics Program, Sidra Medicine 0 0 6 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 2 0 0 0 5
GeneReviews 1 0 0 0 0 4 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 1 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 0 1 0 0 0 5
Center for Genetic Medicine Research, Children's National Medical Center 0 1 3 0 0 0 4
Breda Genetics srl 1 2 1 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 1 0 0 4
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 2 2 0 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Department of Medical Genetics, National Institute of Health 2 1 0 0 0 0 3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 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
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 2 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Dr. Oladnabi Research Group, Golestan University of Medical Sciences 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 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
Pars Genome Lab 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
KTest Genetics, KTest 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Institute for Molecular Bioscience, The University of Queensland 0 1 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 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
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 1 0 0 0 0 0 1

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