ClinVar Miner

Variants in gene FLNB

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
40 6 153 100 45 1 301

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLNB-Related Spectrum Disorders 0 0 83 47 0 0 130
not specified 0 1 10 54 45 0 104
not provided 2 2 64 10 6 0 81
Larsen syndrome, dominant type 12 0 2 0 0 0 14
Spondylocarpotarsal synostosis syndrome 8 2 0 0 0 0 10
Atelosteogenesis type 1 9 0 0 0 0 0 9
Atelosteogenesis type 3 6 0 0 0 0 0 6
Larsen syndrome 4 0 0 0 0 0 4
Boomerang dysplasia 2 0 1 0 0 0 3
Atelosteogenesis type 3; Atelosteogenesis type 1; Boomerang dysplasia; Larsen syndrome, dominant type; Spondylocarpotarsal synostosis syndrome 0 0 2 0 0 0 2
FLNB-Related Disorders 2 0 0 0 0 0 2
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

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 83 47 0 0 130
GeneDx 1 2 15 46 31 0 95
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 34 12 11 0 58
GeneReviews 29 0 0 0 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 11 7 6 0 25
PreventionGenetics 0 0 0 3 22 0 25
OMIM 16 0 0 0 0 0 16
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Fulgent Genetics 0 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 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

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