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
33 39 324 25 16 409

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 30 35 320 1 7 385
not provided 7 7 4 17 14 45
not specified 0 0 1 9 5 15
Inborn genetic diseases 4 0 0 0 0 4
Mitochondrial DNA depletion syndrome 1 1 0 0 0 2
Mitochondrial encephalomyopathy; Global developmental delay 0 1 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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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 0 11 4 15
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 2 2 5 10
OMIM 5 0 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 3 2 0 0 0 5
Ambry Genetics 4 0 0 0 0 4
Mendelics 2 2 0 0 0 4
Baylor Genetics 3 0 0 0 0 3
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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 2
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
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
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
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

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