ClinVar Miner

Variants in gene SBF2

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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
34 16 464 362 80 3 897

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 26 6 340 275 24 0 670
not provided 5 2 65 67 49 1 187
Inborn genetic diseases 2 2 92 30 0 0 126
Charcot-Marie-Tooth disease type 4B2 2 4 66 5 22 2 101
Charcot-Marie-Tooth disease 0 1 35 30 8 0 74
not specified 0 0 13 27 9 0 49
SBF2-related condition 0 0 1 12 0 0 13
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 2 0 0 0 0 0 2
Tip-toe gait 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 6 339 276 24 0 671
GeneDx 2 1 30 73 50 0 156
Ambry Genetics 2 2 92 30 0 0 126
Illumina Laboratory Services, Illumina 0 0 59 4 18 0 81
Molecular Genetics Laboratory, London Health Sciences Centre 0 1 29 30 8 0 68
Athena Diagnostics Inc 4 0 27 5 4 0 40
CeGaT Center for Human Genetics Tuebingen 0 0 10 10 2 0 22
Genetic Services Laboratory, University of Chicago 0 0 9 6 1 0 16
PreventionGenetics, part of Exact Sciences 0 0 1 12 1 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 12 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 3 0 8
Inherited Neuropathy Consortium 0 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 0 1 0 5
OMIM 4 0 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
Eurofins Ntd Llc (ga) 0 1 2 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 1

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