ClinVar Miner

Variants in gene LMNA

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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
217 154 375 171 67 292 944

Condition and significance breakdown #

Total conditions: 72
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 90 62 196 95 49 290 635
Charcot-Marie-Tooth disease, type 2 90 21 145 19 5 0 279
not specified 0 2 66 83 32 1 165
Cardiovascular phenotype 12 9 22 23 6 0 72
Cardiomyopathy 3 3 19 20 15 0 59
Primary dilated cardiomyopathy 16 32 7 1 2 0 57
Hutchinson-Gilford syndrome 19 4 16 11 5 0 54
Congenital muscular dystrophy, LMNA-related 5 6 18 11 4 0 43
Dilated cardiomyopathy 1A 22 9 4 1 1 1 35
Emery-Dreifuss muscular dystrophy 0 1 16 12 4 0 33
Lethal tight skin contracture syndrome 2 0 15 11 4 0 32
Mandibuloacral dysplasia 0 0 16 11 4 0 31
Dilated Cardiomyopathy, Dominant 0 0 15 11 4 0 30
Familial partial lipodystrophy 0 0 15 11 4 0 30
Limb-Girdle Muscular Dystrophy, Recessive 0 0 15 11 4 0 30
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 0 15 11 4 0 30
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 18 3 2 0 0 0 23
Familial partial lipodystrophy 2 16 2 1 0 0 0 18
Muscular dystrophy 9 6 0 0 0 0 15
Charcot-Marie-Tooth disease 5 1 5 0 0 0 11
Familial dilated cardiomyopathy 1 5 3 0 0 0 9
Mandibuloacral dysplasia with type A lipodystrophy 6 0 0 0 1 0 7
Primary familial hypertrophic cardiomyopathy 1 1 4 0 0 0 6
Dilated cardiomyopathy 1 1 1 1 0 0 4
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1 0 3 0 0 0 4
Hutchinson-Gilford progeria syndrome, atypical 4 0 0 0 0 0 4
Inborn genetic diseases 2 1 1 0 0 0 4
Mandibuloacral dysplasia with type A lipodystrophy, atypical 4 0 0 0 0 0 4
Monogenic diabetes 1 1 1 1 0 0 4
Arrhythmogenic right ventricular cardiomyopathy 1 1 1 0 0 0 3
Charcot-Marie-Tooth disease type 2B1 2 0 1 0 0 0 3
Dilated cardiomyopathy 1S 2 1 0 0 0 0 3
Emery-Dreifuss muscular dystrophy 3, autosomal recessive 3 0 0 0 0 0 3
Limb-girdle muscular dystrophy, type 1B 1 1 1 0 0 0 3
Primary dilated cardiomyopathy; Laminopathy 2 1 0 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 2B1; Limb-girdle muscular dystrophy, type 1B; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 0 0 2 0 2
Congenital muscular dystrophy 0 1 0 1 0 0 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 2 0 0 0 0 0 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysplasia with type A lipodystrophy; Limb-girdle muscular dystrophy, type 1B; Lethal tight skin contracture syndrome; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1 0 1 0 0 0 2
Heart-hand syndrome, Slovenian type 2 0 0 0 0 0 2
Hutchinson-Gilford progeria syndrome, childhood-onset 2 0 0 0 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Laminopathy 1 1 0 0 0 0 2
Left ventricular noncompaction 1 1 0 0 0 0 2
Lipodystrophy 1 1 0 0 0 0 2
Partial lipodystrophy, Dunnigan 1 0 1 0 0 0 2
Primary dilated cardiomyopathy; Neuromuscular Diseases 0 2 0 0 0 0 2
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 0 1
Autosomal recessive axonal hereditary motor and sensory neuropathy 1 0 0 0 0 0 1
Cardiac conduction defect, nonspecific 0 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 1
Collapse (finding); History of Sudden Cardiac Death 0 0 1 0 0 0 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy, LMNA-related 0 0 0 0 0 1 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 0 0 0 1 1
Dilated cardiomyopathy 1A; Congenital muscular dystrophy, LMNA-related 0 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related 1 0 0 0 0 0 1
Familial dilated cardiomyopathy; Peripheral neuropathy 0 1 0 0 0 0 1
Hereditary liability to pressure palsies 0 0 1 0 0 0 1
Hutchinson-Gilford progeria syndrome, childhood-onset; Right ventricular cardiomyopathy 1 0 0 0 0 0 1
Insulin resistance syndrome, type A 0 0 1 0 0 0 1
LMNA-Related Disorders 0 0 1 0 0 0 1
LMNA-associated condition 0 1 0 0 0 0 1
Long QT syndrome 0 0 0 0 1 0 1
Metabolic disease 0 0 1 0 0 0 1
Neuromuscular Diseases 1 0 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1
Polyneuropathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Hutchinson-Gilford syndrome 1 0 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1
Ventricular fibrillation, idiopathic 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 90 22 130 93 17 0 352
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 289 289
GeneDx 67 35 72 54 46 0 274
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 8 126 8 10 0 179
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 20 28 46 30 12 1 137
Ambry Genetics 14 10 23 23 6 0 76
OMIM 57 0 1 0 0 0 58
Genetic Services Laboratory, University of Chicago 22 12 9 6 7 0 56
Color 0 0 12 17 14 0 43
Illumina Clinical Services Laboratory,Illumina 0 0 17 12 4 0 33
Athena Diagnostics Inc 5 3 9 2 12 0 31
GeneReviews 31 0 0 0 0 0 31
Blueprint Genetics 5 13 9 0 0 0 27
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 17 3 0 0 26
Integrated Genetics/Laboratory Corporation of America 1 5 1 3 10 0 20
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 2 7 3 6 0 19
Stanford Center for Inherited Cardiovascular Disease, Stanford University 5 7 7 0 0 0 19
PreventionGenetics,PreventionGenetics 0 0 0 10 8 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 2 2 2 8 0 17
CSER _CC_NCGL, University of Washington 1 0 10 2 0 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 3 5 5 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 2 0 1 0 8
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 1 3 0 7
Inherited Neuropathy Consortium 0 0 7 0 0 0 7
Mendelics 2 4 0 0 1 0 6
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 2 0 1 1 0 6
Fulgent Genetics,Fulgent Genetics 2 0 3 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 1 1 0 5
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 2 2 0 0 0 0 4
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 2 0 0 0 0 3
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Baylor Genetics 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Center for Human Genetics,University of Leuven 0 1 1 0 0 0 2
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 1 1 0 0 2
Translational Genomics Laboratory,University of Maryland School of Medicine 1 1 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 1 0 1 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 1 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
SNPedia 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 1 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 0 1
Cardiogenetic Laboratory,Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 1
Cardiovascular Medicine,National Cerebral Cardiovascular Center 1 0 0 0 0 0 1

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