ClinVar Miner

Variants studied for FLNB-associated autosomal dominant filamin related bone disorder

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
18 16 64 13 1 25 130

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLNB 16 16 62 13 0 24 124
FLNB, LOC129936935 0 0 1 0 1 0 2
GZF1 0 0 1 0 0 1 2
CHST3 1 0 0 0 0 0 1
FGFR3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 14 7 1 0 22
GeneReviews 0 0 0 0 0 22 22
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 3 0 0 13
OMIM 10 0 0 0 0 0 10
3billion 1 1 5 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 5 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 3 1 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Mendelics 1 1 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.