ClinVar Miner

Variants in gene LAMA2

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
250 228 856 646 182 9 1910

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laminin alpha 2-related dystrophy 179 46 527 434 70 3 1258
not provided 71 25 178 124 93 0 473
Merosin deficient congenital muscular dystrophy 52 94 103 22 19 6 284
Congenital muscular dystrophy due to partial LAMA2 deficiency 5 3 209 23 31 0 271
not specified 0 0 42 152 70 0 226
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 5 71 19 0 0 0 95
Intellectual disability 0 0 2 12 0 0 14
Muscular dystrophy, limb-girdle, autosomal recessive 23 6 2 3 1 0 0 12
Congenital Muscular Dystrophy, LAMA2-related 1 0 6 2 1 0 10
Inborn genetic diseases 5 0 4 0 0 0 9
Primary dilated cardiomyopathy 0 0 6 0 0 0 6
Elevated serum creatine phosphokinase; Myalgia; Exercise-induced myalgia 1 0 1 0 0 0 2
Muscular dystrophy 0 0 2 0 0 0 2
Polymicrogyria 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease 0 1 0 0 0 0 1
Congenital muscular dystrophy 0 1 0 0 0 0 1
Muscle dystrophy 0 1 0 0 0 0 1
Muscular hypotonia 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 179 46 525 476 70 0 1296
GeneDx 26 15 59 130 125 0 355
Illumina Clinical Services Laboratory,Illumina 0 2 213 25 32 0 272
Counsyl 19 77 65 20 0 0 181
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 46 0 85 3 39 0 173
PreventionGenetics, PreventionGenetics 0 0 0 42 43 0 85
Athena Diagnostics Inc 4 0 41 11 27 0 83
Myriad Women's Health, Inc. 0 69 0 0 0 0 69
Genetic Services Laboratory, University of Chicago 0 1 21 25 15 0 62
CeGaT Praxis fuer Humangenetik Tuebingen 8 7 27 3 0 0 45
Fulgent Genetics,Fulgent Genetics 4 1 20 0 0 0 25
Baylor Genetics 2 2 20 0 0 0 24
Mendelics 13 3 1 1 2 0 20
OMIM 19 0 0 0 0 0 19
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 6 7 2 0 16
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 12 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 11 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 7 0 0 0 11
Ambry Genetics 5 0 4 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 7 1 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 2 0 0 0 6
Genetics and Genomics Program,Sidra Medicine 0 0 6 0 0 0 6
GeneReviews 5 0 0 0 0 0 5
Center for Genetic Medicine Research,Children's National Medical Center 0 1 3 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 1 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 1 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 1 1 0 0 1 0 3
New York Genome Center 0 1 2 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 2 0 0 0 0 2
Kasturba Medical College, Manipal University 1 0 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Breda Genetics srl 0 1 1 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Lineagen, Inc 1 0 0 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
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Dept. of Medical Genetics, 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1

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