ClinVar Miner

Variants in gene FLNC

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
416 210 2838 2475 334 7 5539

Condition and significance breakdown #

Total conditions: 41
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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; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 338 75 1941 2098 185 0 4637
Cardiovascular phenotype 75 21 1086 737 52 0 1967
not provided 42 53 753 379 179 0 1267
not specified 0 0 57 228 155 0 372
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2 9 127 27 3 1 169
Hypertrophic cardiomyopathy 26 20 39 90 3 1 0 149
FLNC-related disorder 5 4 55 72 10 0 145
Cardiomyopathy 2 12 46 24 43 0 127
Myofibrillar myopathy 5 6 5 19 2 0 1 33
Primary dilated cardiomyopathy 6 7 17 1 0 0 31
Distal myopathy with posterior leg and anterior hand involvement 5 5 18 2 0 0 30
Primary familial dilated cardiomyopathy 12 9 0 0 0 0 21
Hypertrophic cardiomyopathy 0 0 12 1 0 0 13
Restrictive cardiomyopathy 3 3 1 0 0 0 7
Arrhythmogenic right ventricular cardiomyopathy 1 0 2 0 0 0 3
Cardiomyopathy, familial restrictive, 5 3 0 0 0 0 0 3
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 0 0 2 0 0 1 3
See cases 0 0 3 0 0 0 3
Arrhythmogenic right ventricular dysplasia, familial, 15 2 0 0 0 0 0 2
Myofibrillar myopathy 1 0 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
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Abnormality of the musculature 1 0 0 0 0 0 1
Arrhythmogenic cardiomyopathy 1 0 0 0 0 0 1
Asymmetric septal hypertrophy 0 1 0 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
Conduction disorder of the heart 0 1 0 0 0 0 1
Dilated Cardiomyopathy, Dominant 1 0 0 0 0 0 1
Dilated cardiomyopathy 1A 1 0 0 0 0 0 1
Disorder of cardiovascular system 0 1 0 0 0 0 1
FLNC-associated cardiomyopathy 0 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 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
Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26 0 0 1 0 0 0 1
Nemaline myopathy 0 1 0 0 0 0 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
Primary familial hypertrophic cardiomyopathy 0 1 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: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 338 75 1941 2104 185 0 4643
Ambry Genetics 74 14 1066 737 52 0 1943
GeneDx 24 29 446 236 178 0 913
Revvity Omics, Revvity 6 6 264 4 1 0 281
CeGaT Center for Human Genetics Tuebingen 9 5 73 138 19 0 244
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 42 87 104 0 239
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 8 63 97 56 0 227
PreventionGenetics, part of Exact Sciences 2 2 55 87 48 0 194
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 5 42 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
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 16 25 24 0 66
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 45 0 0 0 52
Athena Diagnostics 0 1 8 2 37 0 48
Mayo Clinic Laboratories, Mayo Clinic 1 3 36 0 0 0 40
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
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 15 0 0 0 19
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
Institute of Human Genetics, University of Wuerzburg 0 5 9 0 0 0 14
Baylor Genetics 2 3 8 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 8 1 0 0 11
Molecular Genetics, Royal Melbourne Hospital 2 1 8 0 0 0 11
3billion 2 8 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 0 6 3 0 0 0 9
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
deCODE genetics, Amgen 1 6 0 0 0 0 7
New York Genome Center 1 1 5 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 0 6 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 6 0 0 0 6
KardioGenetik, Herz- und Diabeteszentrum NRW 0 3 3 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 4 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
Human Genetics Bochum, Ruhr University Bochum 0 2 3 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 1 0 4 0 0 0 5
MVZ Medizinische Genetik Mainz 0 0 5 0 0 0 5
Mendelics 1 1 2 0 0 0 4
Illumina Laboratory Services, Illumina 1 2 1 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 0 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 3 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 2 0 0 0 0 3
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 3 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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 Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Stephanie Ware Laboratory, Indiana University School of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 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
DASA 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 0 2
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 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
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 0 1 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
emedgene Technologies 1 0 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Kowloon West Cluster Laboratory Genetic Service, Princess Margaret Hospital 1 0 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Roden Lab, Vanderbilt University Medical Center 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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
Department of Cardiology, Liyang City Hospital of Traditional Chinese Medicine 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1
Research Unit of Cardiovascular and Metabolic Disease, Inserm 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
Inheritance Genetic Center 0 1 0 0 0 0 1

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