ClinVar Miner

Variants in gene SBF2

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Minimum submission review status: Collection method:
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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
12 8 164 78 21 262

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 5 2 126 43 14 179
not specified 0 0 13 37 8 58
not provided 3 4 31 3 4 45
Charcot-Marie-Tooth disease, type 4B2 2 0 4 0 2 8
Charcot-Marie-Tooth disease 0 0 7 0 0 7
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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 2 84 35 7 133
Illumina Clinical Services Laboratory,Illumina 0 0 53 8 7 68
GeneDx 1 2 21 36 7 67
Athena Diagnostics Inc 2 0 8 0 3 13
Genetic Services Laboratory, University of Chicago 0 0 7 1 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 7
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 0 2
Ambry Genetics 0 2 0 0 0 2
PreventionGenetics 0 0 0 0 2 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1

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