ClinVar Miner

Variants in gene FLNB

Minimum submission review status: Collection method:
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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
43 15 285 172 132 1 564

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 3 5 108 103 100 0 298
FLNB-Related Spectrum Disorders 0 0 168 56 35 0 259
not specified 0 2 18 57 52 0 119
none provided 0 0 6 11 21 0 38
Larsen syndrome 13 2 2 1 0 0 18
Atelosteogenesis type 1 9 0 6 0 0 0 15
Atelosteogenesis type III 6 2 5 0 0 0 13
Spondylocarpotarsal synostosis syndrome 9 3 2 0 0 0 13
Boomerang dysplasia 2 0 1 0 0 0 3
Atelosteogenesis type III; Atelosteogenesis type 1; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 2 0 0 0 2
FLNB-Related Disorders 2 0 0 0 0 0 2
Atelosteogenesis type III; 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
See cases 1 0 0 0 0 0 1
Severe postnatal growth retardation; Synostosis involving bones of the lower limbs 0 0 1 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
Illumina Clinical Services Laboratory,Illumina 0 0 168 56 35 0 259
Invitae 1 3 47 86 56 0 193
GeneDx 1 2 15 60 76 0 154
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 24 20 33 0 79
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 34 12 11 0 58
GeneReviews 29 0 0 0 0 0 29
PreventionGenetics, PreventionGenetics 0 0 0 3 22 0 25
OMIM 16 0 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 2 0 0 10
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
Baylor Genetics 0 0 5 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 0 0 0 5
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
Mendelics 0 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
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
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, 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 of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
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
New York Genome Center 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

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