ClinVar Miner

Variants in gene FLNC

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
46 25 506 257 110 2 863

Condition and significance breakdown #

Total conditions: 18
Download table as spreadsheet
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 28 6 416 169 75 0 694
not specified 0 0 8 117 64 0 172
not provided 2 13 109 1 23 0 148
Cardiomyopathy, familial hypertrophic, 26 3 2 3 2 0 0 10
Myofibrillar myopathy, filamin C-related 2 0 4 2 0 1 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
Hypertrophic cardiomyopathy 0 0 7 1 0 0 8
Dilated Cardiomyopathy, Dominant 4 2 0 0 0 0 6
Primary dilated cardiomyopathy 1 0 1 1 0 0 3
Restrictive cardiomyopathy 2 1 0 0 0 0 3
Cardiomyopathy 0 1 1 0 0 0 2
Cardiomyopathy, familial restrictive, 5 2 0 0 0 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Inborn genetic diseases 0 0 1 0 0 0 1
Muscle weakness 0 0 1 0 0 0 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 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

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 32 8 416 169 75 0 700
GeneDx 2 7 40 94 53 0 196
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 44 4 23 0 71
PreventionGenetics 0 0 0 18 39 0 57
Athena Diagnostics Inc 0 1 3 0 22 0 26
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 15 0 0 0 16
OMIM 9 0 0 0 0 0 9
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 4 0 0 0 4
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
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
Institute of Human Genetics,University of Wuerzburg 0 1 1 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
Ambry Genetics 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.