ClinVar Miner

Variants in gene FLNB

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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
63 52 953 1000 259 30 2069

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 39 28 732 944 244 0 1856
FLNB-Related Spectrum Disorders 1 0 165 55 34 0 255
not specified 0 2 27 43 50 0 114
Inborn genetic diseases 0 0 79 27 1 0 107
FLNB-related condition 0 3 24 58 3 0 88
Connective tissue disorder 0 2 27 15 15 0 59
Larsen syndrome 7 7 13 2 0 12 36
Spondylocarpotarsal synostosis syndrome 15 7 3 0 0 5 25
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 11 7 0 0 18
Atelosteogenesis type I 4 0 7 0 0 6 17
Atelosteogenesis type III 2 2 6 0 0 4 14
Boomerang dysplasia 2 0 1 1 0 0 4
See cases 1 1 1 0 0 0 3
FLNB-Related Disorders 0 0 0 0 0 2 2
Abnormality of the skeletal system 0 1 0 0 0 0 1
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Larsen syndrome 0 0 1 0 0 0 1
Atelosteogenesis type III; Larsen syndrome 0 0 1 0 0 0 1
Atelosteogenesis type III; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 1 0 0 0 1
FLNB-Related Disorder 0 0 0 0 0 1 1
Patellar hypoplasia; Knee dislocation; Limited knee flexion/extension 0 1 0 0 0 0 1
Severe postnatal growth retardation; Synostosis involving bones of the lower limbs 0 0 1 0 0 0 1
Short stature; Abnormality of the vertebral column 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 22 570 827 125 0 1581
GeneDx 3 3 103 135 160 0 404
Illumina Laboratory Services, Illumina 0 0 165 55 34 0 254
PreventionGenetics, part of Exact Sciences 0 3 24 61 24 0 112
Ambry Genetics 0 0 79 27 1 0 107
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 28 31 38 0 99
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 27 15 15 0 59
Eurofins Ntd Llc (ga) 1 0 34 11 11 0 57
CeGaT Center for Human Genetics Tuebingen 0 0 19 36 2 0 57
GeneReviews 0 0 0 0 0 29 29
Revvity Omics, Revvity 1 1 21 0 0 0 23
Fulgent Genetics, Fulgent Genetics 0 0 10 7 0 0 17
OMIM 16 0 0 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 9 2 0 16
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 7 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 9 1 0 0 11
Blueprint Genetics 1 2 8 0 0 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 4 1 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 0 1 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
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
3billion 0 2 3 0 0 0 5
Mendelics 1 1 1 1 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 3 1 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
Women's and Children's Health, University of Otago 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1

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