ClinVar Miner

Variants in gene LAMA2

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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
125 115 448 222 91 6 848

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laminin alpha 2-related dystrophy 47 12 174 57 55 1 346
not provided 63 20 146 13 8 0 244
Merosin deficient congenital muscular dystrophy 35 81 78 21 16 5 230
not specified 0 0 43 154 70 0 227
Congenital Muscular Dystrophy, LAMA2-related 0 0 98 21 9 0 128
Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 4 1 18 0 0 0 23
Congenital muscular dystrophy due to partial LAMA2 deficiency 5 3 7 0 0 0 15
Inborn genetic diseases 3 0 2 0 0 0 5
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 4 1 0 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
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 12 171 57 55 0 342
GeneDx 24 15 59 100 44 0 242
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 46 0 85 3 39 0 173
Counsyl 16 72 64 20 0 0 172
Illumina Clinical Services Laboratory,Illumina 0 2 103 21 9 0 135
PreventionGenetics 0 0 0 42 43 0 85
Athena Diagnostics Inc 4 0 30 10 21 0 65
Genetic Services Laboratory, University of Chicago 0 1 22 24 15 0 62
Fulgent Genetics 4 1 20 0 0 0 25
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 3 0 7 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 6 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 6 6
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Mendelics 1 1 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 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
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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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

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