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
197 134 347 127 38 291 828

Condition and significance breakdown #

Total conditions: 62
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 90 56 189 3 10 290 526
Charcot-Marie-Tooth disease, type 2 65 12 114 54 18 0 258
not specified 0 1 68 80 32 1 163
Cardiovascular phenotype 10 9 25 22 6 0 72
Cardiomyopathy 3 3 19 20 15 0 59
Primary dilated cardiomyopathy 16 31 7 1 2 0 56
Hutchinson-Gilford syndrome 18 0 16 11 4 0 48
Congenital muscular dystrophy, LMNA-related 5 6 18 11 4 0 43
Dilated cardiomyopathy 1A 22 10 4 1 0 0 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
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 19 4 1 0 0 0 24
Familial partial lipodystrophy 2 17 2 1 0 0 0 19
Muscular dystrophy 9 6 0 0 0 0 15
Charcot-Marie-Tooth disease 5 1 5 0 0 0 11
Familial dilated cardiomyopathy 1 4 2 0 0 0 7
Mandibuloacral dysostosis 6 0 0 0 0 0 6
Primary familial hypertrophic cardiomyopathy 1 1 3 0 0 0 5
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysostosis; 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
Laminopathy 3 1 0 0 0 0 4
Limb-girdle muscular dystrophy, type 1B 2 2 0 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
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 1 2 0 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy 0 1 1 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 2B1 2 0 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; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysostosis; 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
Lipodystrophy 1 1 0 0 0 0 2
Mandibuloacral dysplasia with type A lipodystrophy 1 0 0 0 1 0 2
Partial lipodystrophy, Dunnigan 1 0 1 0 0 0 2
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 0 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related 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 0 0 1 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
Hypertrophic cardiomyopathy 0 0 1 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
Left ventricular noncompaction 0 1 0 0 0 0 1
Metabolic disease 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 1 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: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 289 289
GeneDx 67 33 72 47 18 0 237
Invitae 65 13 99 44 14 0 235
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 8 126 8 10 0 179
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 18 27 47 29 12 1 134
Ambry Genetics 12 10 26 22 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
GeneReviews 31 0 0 0 0 0 31
Athena Diagnostics Inc 5 3 8 2 9 0 27
Blueprint Genetics, 5 13 9 0 0 0 27
Integrated Genetics/Laboratory Corporation of America 1 5 3 1 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 0 0 0 10 8 0 18
CSER_CC_NCGL; University of Washington Medical Center 1 0 10 2 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 1 1 6 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 8 0 0 0 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 3 4 0 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 3 2 0 1 0 8
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 3 1 3 0 7
Inherited Neuropathy Consortium 0 0 7 0 0 0 7
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
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
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
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
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
Mendelics 1 0 0 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 1 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
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 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
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 1 0 0 0 0 1

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