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
261 184 577 261 76 292 1235

Condition and significance breakdown #

Total conditions: 76
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, type 2 156 40 303 120 17 0 635
not provided 93 66 204 47 39 290 611
Cardiomyopathy 6 6 151 123 17 0 298
not specified 0 2 72 84 33 1 172
Dilated cardiomyopathy 1A 27 13 46 9 5 1 97
Hutchinson-Gilford syndrome 19 3 32 11 13 0 77
Cardiovascular phenotype 12 9 21 24 6 0 72
Charcot-Marie-Tooth disease 7 3 24 27 9 0 69
Primary dilated cardiomyopathy 18 35 14 2 2 0 69
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 18 5 26 8 11 0 68
Congenital muscular dystrophy, LMNA-related 5 6 41 9 7 0 67
Familial partial lipodystrophy 2 16 2 22 7 16 0 62
Lethal tight skin contracture syndrome 2 0 39 9 7 0 57
Emery-Dreifuss muscular dystrophy 1 0 32 7 16 0 55
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 0 37 9 7 0 53
Mandibuloacral dysplasia with type A lipodystrophy 6 0 28 9 7 0 50
Charcot-Marie-Tooth disease type 2B1 2 0 26 8 11 0 47
Limb-Girdle Muscular Dystrophy, Recessive 0 0 15 11 4 0 30
Muscular dystrophy 9 6 0 0 0 0 15
Familial partial lipodystrophy 1 0 9 0 1 0 11
none provided 0 0 2 5 4 0 11
Dilated Cardiomyopathy, Dominant 0 0 9 1 0 0 10
Mandibuloacral dysplasia 0 0 10 0 0 0 10
Primary familial dilated cardiomyopathy 2 5 3 0 0 0 10
Inborn genetic diseases 4 1 1 0 0 0 6
Monogenic diabetes 1 1 2 1 1 0 6
Primary familial hypertrophic cardiomyopathy 1 1 4 0 0 0 6
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
Limb-girdle muscular dystrophy, type 1B 1 1 2 0 0 0 4
Mandibuloacral dysplasia with type A lipodystrophy, atypical 4 0 0 0 0 0 4
Arrhythmogenic right ventricular cardiomyopathy 1 1 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
Laminopathy 1 2 0 0 0 0 3
Lipodystrophy (disease) 1 1 1 0 0 0 3
Primary dilated cardiomyopathy; Laminopathy 2 1 0 0 0 0 3
Arrhythmogenic right ventricular dysplasia 9 0 2 0 0 0 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
Left ventricular noncompaction 1 1 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
Autosomal recessive limb-girdle muscular dystrophy type 2B 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
Developmental regression; Relative macrocephaly; Severe muscular hypotonia 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 hypertrophic cardiomyopathy 1 1 0 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-resistant diabetes mellitus AND acanthosis nigricans 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 disease 1 0 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 0 0 1 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
Primary dilated cardiomyopathy; Neuromuscular disease 0 1 0 0 0 0 1
Primary familial dilated cardiomyopathy; Peripheral neuropathy 0 1 0 0 0 0 1
Proximal muscle weakness 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 1
Sudden unexplained death 1 0 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 156 40 294 136 17 0 643
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 289 289
Color Health, Inc 1 1 139 122 15 0 278
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 30 45 30 12 1 138
Ambry Genetics 16 10 22 24 6 0 78
Molecular Genetics Laboratory,London Health Sciences Centre 2 2 19 27 9 0 59
OMIM 57 0 1 0 0 0 58
Genetic Services Laboratory, University of Chicago 22 12 9 6 7 0 56
Illumina Clinical Services Laboratory,Illumina 1 1 41 18 18 0 56
Athena Diagnostics Inc 5 5 14 3 14 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 3 5 23 5 0 0 36
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 3 4 14 3 9 0 33
Integrated Genetics/Laboratory Corporation of America 3 5 8 5 11 0 32
GeneReviews 31 0 0 0 0 0 31
Blueprint Genetics 5 13 9 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 2 4 7 10 0 26
Stanford Center for Inherited Cardiovascular Disease, Stanford University 5 7 7 0 0 0 19
PreventionGenetics, PreventionGenetics 0 0 0 10 8 0 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 4 5 6 0 2 0 17
CSER _CC_NCGL, University of Washington 1 0 10 2 0 0 13
Baylor Genetics 2 0 9 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 6 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 2 0 1 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 1 5 0 0 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
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 2 0 1 1 0 6
Mendelics 2 3 0 0 1 0 5
Fulgent Genetics,Fulgent Genetics 2 0 3 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 0 5 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 1 1 0 5
Broad Institute Rare Disease Group, Broad Institute 1 1 2 0 1 0 5
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 2 0 0 0 0 4
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 1 2 1 0 0 0 4
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 2 2 0 0 0 0 4
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 2 1 1 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 0 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 2 0 0 0 3
Institute of Human Genetics,University of Wuerzburg 0 2 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 2 0 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
Translational Genomics Laboratory,University of Maryland School of Medicine 1 1 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 2 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 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
Loeys Lab,Universiteit Antwerpen 1 0 1 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Mayo Clinic 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
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Cardiogenetic Laboratory,Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Cardiovascular Medicine,National Cerebral Cardiovascular Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics,Tor Vergata University 1 0 0 0 0 0 1

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