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
78 40 811 481 151 2 1452

Condition and significance breakdown #

Total conditions: 21
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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 61 16 718 276 89 0 1160
not provided 3 15 133 139 56 0 343
not specified 0 0 9 117 64 0 173
Myofibrillar myopathy, filamin C-related 3 1 5 2 0 1 12
Cardiomyopathy, familial hypertrophic, 26 3 2 4 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
Myopathy, distal, 4 2 0 5 2 0 0 9
Dilated Cardiomyopathy, Dominant 3 2 0 0 0 0 5
Primary dilated cardiomyopathy 1 0 3 1 0 0 5
Restrictive cardiomyopathy 2 2 0 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
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 0 1 0 0 0 0 1
Familial dilated cardiomyopathy 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 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

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 64 18 718 375 89 0 1264
GeneDx 2 8 40 121 81 0 252
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 44 4 23 0 71
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 43 13 0 0 59
PreventionGenetics,PreventionGenetics 0 0 0 18 39 0 57
Athena Diagnostics Inc 0 1 3 0 27 0 31
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
OMIM 9 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 1 0 8 0 0 0 9
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
Institute of Human Genetics,University of Wuerzburg 0 2 3 0 0 0 5
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
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
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
Ambry Genetics 0 0 1 0 0 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 Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Kowloon West Cluster Laboratory Genetic Service,Princess Margaret Hospital 1 0 0 0 0 0 1

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