ClinVar Miner

Variants in gene FBXL4

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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 total
35 43 329 27 16 416

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 32 37 324 1 7 390
not provided 8 7 6 19 14 50
not specified 0 0 1 9 5 15
Inborn genetic diseases 5 1 0 0 0 6
Mitochondrial DNA depletion syndrome 1 1 0 0 0 2
Mitochondrial encephalomyopathy; Global developmental delay 0 1 0 0 0 1
Moyamoya angiopathy 0 1 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 22 31 320 1 7 381
GeneDx 5 2 1 13 11 32
Invitae 0 0 1 13 4 18
Baylor Genetics 4 0 7 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 2 5 10
Institute of Human Genetics, Klinikum rechts der Isar 4 3 0 0 0 7
Ambry Genetics 5 1 0 0 0 6
OMIM 5 0 0 0 0 5
Mendelics 2 2 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Lineagen, Inc 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 0 1 0 0 0 1

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