ClinVar Miner

Variants in gene LAMA2

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
180 134 658 429 182 7 1367

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laminin alpha 2-related dystrophy 107 20 324 187 70 1 709
not provided 71 25 165 121 93 0 459
Congenital muscular dystrophy due to partial LAMA2 deficiency 5 3 209 23 31 0 271
Merosin deficient congenital muscular dystrophy 46 90 79 22 18 6 252
not specified 0 0 43 153 70 0 226
Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 5 2 18 0 0 0 25
Congenital Muscular Dystrophy, LAMA2-related 1 0 6 2 1 0 10
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 5 2 0 0 0 0 7
Inborn genetic diseases 3 0 2 0 0 0 5
Elevated serum creatine phosphokinase; Myalgia; Exercise-induced myalgia 1 0 1 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
Primary dilated cardiomyopathy 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 107 20 322 261 70 0 780
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 36 11 25 0 76
Genetic Services Laboratory, University of Chicago 0 1 22 24 15 0 62
CeGaT Praxis fuer Humangenetik Tuebingen 8 8 23 3 0 0 42
Fulgent Genetics,Fulgent Genetics 4 1 20 0 0 0 25
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
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
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Ambry Genetics 3 0 2 0 0 0 5
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 Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
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
Institute of Human Genetics,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
Lineagen, Inc 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: 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
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
Genetics and Genomics Program,Sidra Medicine 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.