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
135 56 1220 604 151 2 2045

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 121 27 1122 450 88 0 1808
not provided 5 17 144 143 57 0 361
not specified 0 0 9 117 64 0 173
Cardiomyopathy, familial hypertrophic, 26 5 3 17 2 0 0 27
Myofibrillar myopathy, filamin C-related 4 1 7 2 0 1 15
Myopathy, distal, 4 2 0 7 2 0 0 11
Hypertrophic cardiomyopathy 0 0 7 1 1 0 9
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26 1 0 8 0 0 0 9
Primary dilated cardiomyopathy 1 0 3 1 0 0 5
Restrictive cardiomyopathy 2 3 0 0 0 0 5
Dilated Cardiomyopathy, Dominant 2 2 0 0 0 0 4
Inborn genetic diseases 1 0 3 0 0 0 4
Cardiomyopathy 0 1 1 0 0 0 2
Cardiomyopathy, familial restrictive, 5 2 0 0 0 0 0 2
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 0 0 1 0 0 1 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Asymmetric septal hypertrophy 0 1 0 0 0 0 1
Conduction disorder of the heart 0 1 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
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 dilated cardiomyopathy 0 1 0 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 121 27 1122 502 89 0 1861
GeneDx 2 8 40 121 81 0 252
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 50 18 0 0 72
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 44 4 23 0 71
PreventionGenetics, PreventionGenetics 0 0 0 18 39 0 57
Athena Diagnostics Inc 0 1 6 0 32 0 39
Genetic Services Laboratory, University of Chicago 0 0 1 12 13 0 26
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 4 0 19 0 23
Blueprint Genetics 0 5 12 0 0 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 9 0 0 0 12
OMIM 10 0 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 1 0 8 0 0 0 9
Baylor Genetics 1 0 5 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 6 0 0 0 6
Center for Human Genetics,University of Leuven 0 0 6 0 0 0 6
Institute of Human Genetics,University of Wuerzburg 0 3 3 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Ambry Genetics 1 0 3 0 0 0 4
Mendelics 1 1 1 0 0 0 3
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 3 0 0 0 0 3
Phosphorus, Inc. 0 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Stephanie Ware Laboratory,Indiana University School of Medicine 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,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
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
emedgene Technologies 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Kowloon West Cluster Laboratory Genetic Service,Princess Margaret Hospital 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1

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