ClinVar Miner

Variants in gene FLNC

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Gene type:

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
465 247 3219 2694 353 31 6193

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; not provided; Hypertrophic cardiomyopathy 26 370 82 2010 2277 192 0 4931
Cardiovascular phenotype 100 26 1327 819 53 0 2318
not provided 44 63 926 420 183 0 1485
not specified 0 0 89 296 178 0 478
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 12 5 170 3 1 0 191
Hypertrophic cardiomyopathy 26 26 49 102 3 1 0 176
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2 12 128 27 3 1 173
FLNC-related disorder 5 5 57 72 10 0 148
Cardiomyopathy 3 14 45 24 43 0 129
Primary dilated cardiomyopathy 9 6 21 1 0 0 37
Myofibrillar myopathy 5 6 6 20 2 0 1 35
Distal myopathy with posterior leg and anterior hand involvement 5 5 18 2 0 0 30
Primary familial dilated cardiomyopathy 13 10 0 0 0 0 23
Hypertrophic cardiomyopathy 0 0 12 1 0 0 13
Restrictive cardiomyopathy 3 3 1 0 0 0 7
Gastric cancer 0 0 0 0 0 5 5
Arrhythmogenic right ventricular cardiomyopathy 2 0 2 0 0 0 4
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 0 0 3 0 0 1 4
Sarcoma 0 0 0 0 0 4 4
Cardiomyopathy, familial restrictive, 5 3 0 0 0 0 0 3
Cervical cancer 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Primary familial hypertrophic cardiomyopathy 0 1 2 0 0 0 3
See cases 0 0 3 0 0 0 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Arrhythmogenic right ventricular dysplasia, familial, 15 2 0 0 0 0 0 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Dilated cardiomyopathy 1A 1 0 1 0 0 0 2
Limb-girdle muscular dystrophy 0 0 1 1 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Myofibrillar myopathy 1 0 1 0 0 0 2
Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26 0 1 1 0 0 0 2
Myofibrillar myopathy 5; Primary familial hypertrophic cardiomyopathy; Distal myopathy with posterior leg and anterior hand involvement 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Abnormality of the musculature 1 0 0 0 0 0 1
Asymmetric septal hypertrophy 0 1 0 0 0 0 1
Cardiac hypertrophy 0 0 1 0 0 0 1
Cardiomyopathy, familial restrictive, 1; Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 0 0 0 0 0 1 1
Cardiomyopathy, familial restrictive, 1; Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 0 0 0 0 1 1
Conduction disorder of the heart 0 1 0 0 0 0 1
Congenital long QT syndrome 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 1 0 0 0 0 0 1
Disorder of cardiovascular system 0 1 0 0 0 0 1
Distal myopathy 0 0 1 0 0 0 1
FLNC-associated cardiomyopathy 0 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Muscle weakness 0 0 1 0 0 0 1
Myofibrillar myopathy 5; Desmin-related myofibrillar myopathy; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 0 0 0 0 1 1
Nemaline myopathy 0 1 0 0 0 0 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Patent foramen ovale; Episodic vomiting; Facial asymmetry; Asymmetry of the thorax; Abnormal ventricular septum morphology; Two-raphe bicuspid aortic valve; Abnormal morphology of left ventricular trabeculae 1 0 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
Spastic ataxia; Cerebellar ataxia 1 0 0 0 0 0 1
Tetralogy of Fallot 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 117
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 381 87 2180 2286 193 0 5127
Ambry Genetics 98 16 1298 819 53 0 2284
GeneDx 24 36 586 237 178 0 1061
Revvity Omics, Revvity 7 6 313 10 2 0 338
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 4 73 131 124 0 338
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 4 12 79 131 56 0 282
CeGaT Center for Human Genetics Tuebingen 9 5 81 160 18 0 273
PreventionGenetics, part of Exact Sciences 2 2 55 87 48 0 194
Mayo Clinic Laboratories, Mayo Clinic 4 5 55 47 50 0 161
Fulgent Genetics, Fulgent Genetics 2 5 108 24 3 0 142
Clinical Genetics, Academic Medical Center 4 0 18 5 99 0 126
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 6 41 24 43 0 116
Breakthrough Genomics, Breakthrough Genomics 0 0 7 34 73 0 114
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 4 20 38 43 0 105
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 1 23 52 19 0 97
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 23 38 33 0 96
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 19 42 10 0 75
Eurofins Ntd Llc (ga) 0 0 43 4 23 0 70
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 0 51 0 0 0 61
Athena Diagnostics 0 1 8 2 40 0 51
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 33 2 0 39
Genetic Services Laboratory, University of Chicago 0 0 2 13 18 0 33
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 24 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 4 0 19 0 24
Center for Human Genetics, University of Leuven 9 6 6 0 0 0 21
Clinical Genetics Laboratory, Skane University Hospital Lund 1 3 17 0 0 0 21
3billion 4 11 3 0 0 0 18
OMIM 18 0 0 0 0 0 18
Blueprint Genetics 0 5 12 0 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 13 3 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 1 11 0 1 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 0 11 4 0 0 0 15
Institute of Human Genetics, University of Wuerzburg 0 5 9 0 0 0 14
Baylor Genetics 2 3 8 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 9 2 0 0 13
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 12 0 0 13
Phosphorus, Inc. 0 0 6 7 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 9 0 0 0 12
Molecular Genetics, Royal Melbourne Hospital 2 1 8 0 0 0 11
Institute of Immunology and Genetics Kaiserslautern 2 0 8 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Clinical Genomics Laboratory, Stanford Medicine 0 2 6 0 0 0 8
Human Genetics Bochum, Ruhr University Bochum 1 3 4 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 3 0 0 0 0 7
KardioGenetik, Herz- und Diabeteszentrum NRW 0 4 3 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 0 6 0 0 0 7
New York Genome Center 1 1 5 0 0 0 7
deCODE genetics, Amgen 1 6 0 0 0 0 7
MVZ Medizinische Genetik Mainz 0 0 6 0 0 0 6
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 2 3 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 6 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 3 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 4 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 1 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 2 0 0 0 4
Dasa 2 1 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Illumina Laboratory Services, Illumina 1 2 1 0 0 0 4
Mendelics 1 1 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 3 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 3 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 1 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 2
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 1 1 0 0 0 0 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 0 2
Stephanie Ware Laboratory, Indiana University School of Medicine 2 0 0 0 0 0 2
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 2 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 0 1 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 1 0 0 0 1
Department of Cardiology, Liyang City Hospital of Traditional Chinese Medicine 0 1 0 0 0 0 1
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 0 0 1 0 0 0 1
Dept of Reproduction and Endocrinology, The Sixth Affiliated Hospital of Sun Yat-sen University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
IMHOTEP Cardiovascular Genetics Laboratory, University of Cape Town 1 0 0 0 0 0 1
Inheritance Genetic Center 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Kowloon West Cluster Laboratory Genetic Service, Princess Margaret Hospital 1 0 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Research Unit of Cardiovascular and Metabolic Disease, Inserm 0 1 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Roden Lab, Vanderbilt University Medical Center 1 0 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 1

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