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 total
19 16 374 173 60 609

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease type 4 13 7 264 93 11 387
not provided 3 4 45 48 33 132
Charcot-Marie-Tooth disease, type 4B2 3 2 87 7 23 121
Charcot-Marie-Tooth disease 0 1 41 42 10 94
not specified 0 0 13 36 10 58
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 2 0 0 0 0 2
Inborn genetic diseases 0 2 0 0 0 2
Peripheral neuropathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 7 263 109 13 405
Illumina Clinical Services Laboratory,Illumina 0 0 83 5 20 108
GeneDx 1 2 21 45 33 102
Molecular Genetics Laboratory,London Health Sciences Centre 0 1 34 42 10 87
Athena Diagnostics Inc 2 0 18 4 5 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 12 3 0 15
Genetic Services Laboratory, University of Chicago 0 0 7 0 1 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 3 3 8
Inherited Neuropathy Consortium 0 0 7 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2 4 0 0 6
OMIM 4 0 0 0 0 4
Baylor Genetics 0 0 4 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
Ambry Genetics 0 2 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 2 2
Lineagen, Inc 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Claritas Genomics 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1

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