ClinVar Miner

Variants in gene FLNC

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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
346 162 2432 2124 311 7 4751

Condition and significance breakdown #

Total conditions: 37
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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 292 66 1723 1871 181 0 4133
Cardiovascular phenotype 48 8 726 526 50 0 1358
not provided 29 44 607 326 165 0 1049
not specified 0 0 27 107 125 0 218
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 1 2 107 24 3 1 138
Cardiomyopathy 2 12 45 24 43 0 126
Hypertrophic cardiomyopathy 26 15 25 54 2 0 0 92
Inborn genetic diseases 1 0 41 0 0 0 42
FLNC-related condition 0 0 31 0 0 0 31
Myofibrillar myopathy 5 4 5 16 2 0 1 28
Distal myopathy with posterior leg and anterior hand involvement 4 3 16 2 0 0 25
Primary dilated cardiomyopathy 2 4 13 1 0 0 20
Primary familial dilated cardiomyopathy 10 8 0 0 0 0 18
Hypertrophic cardiomyopathy 0 0 7 1 1 0 9
Restrictive cardiomyopathy 2 3 1 0 0 0 6
Cardiomyopathy, familial restrictive, 5 3 0 0 0 0 0 3
Arrhythmogenic right ventricular dysplasia, familial, 15 2 0 0 0 0 0 2
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 0 1 2
Myofibrillar myopathy 5; Primary familial hypertrophic cardiomyopathy; Distal myopathy with posterior leg and anterior hand involvement 0 0 0 0 0 2 2
See cases 0 0 2 0 0 0 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
FLNC-Related Disorders 1 0 0 0 0 0 1
FLNC-associated cardiomyopathy 0 1 0 0 0 0 1
Muscle weakness 0 0 1 0 0 0 1
Myofibrillar myopathy 1 0 0 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
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: 95
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 293 66 1723 1877 181 0 4140
Ambry Genetics 49 8 764 526 50 0 1397
GeneDx 16 23 312 236 178 0 765
Revvity Omics, Revvity Omics 6 6 264 4 1 0 281
CeGaT Center for Human Genetics Tuebingen 4 5 47 86 19 0 161
Fulgent Genetics, Fulgent Genetics 1 2 101 24 3 0 131
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 12 29 67 0 111
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
Preventiongenetics, part of Exact Sciences 0 0 31 17 38 0 86
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
Athena Diagnostics Inc 0 1 7 1 33 0 42
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 33 2 0 39
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 12 17 0 36
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 31 0 0 0 35
Genetic Services Laboratory, University of Chicago 0 0 2 13 18 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 0 19 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 1 20 0 0 0 21
Center for Human Genetics, University of Leuven 9 6 6 0 0 0 21
OMIM 18 0 0 0 0 0 18
Blueprint Genetics 0 5 12 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 1 11 0 1 0 16
Phosphorus, Inc. 0 0 6 7 0 0 13
Baylor Genetics 1 3 8 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 9 0 0 0 12
Institute of Human Genetics, University of Wuerzburg 0 5 6 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 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
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 6 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 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
Mendelics 1 1 2 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Molecular Genetics, Royal Melbourne Hospital 0 0 4 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 2 2 0 0 0 4
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 0 0 3
3billion 1 2 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 2 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
Illumina Laboratory Services, Illumina 0 1 1 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Stephanie Ware Laboratory, Indiana University School of Medicine 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 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
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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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 1 0 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
Institute of Human Genetics, Heidelberg University 0 1 0 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
Clinical Genomics Program, Stanford Medicine 0 1 0 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 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
Institute of Immunology and Genetics Kaiserslautern 0 0 1 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
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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