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
13 8 199 136 52 381

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 2 158 25 7 196
not provided 3 4 39 81 42 165
not specified 0 0 13 37 8 58
Charcot-Marie-Tooth disease, type 4B2 3 0 4 2 4 13
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 2 116 87 13 223
GeneDx 1 2 21 45 33 102
Illumina Clinical Services Laboratory,Illumina 0 0 53 8 7 68
Athena Diagnostics Inc 2 0 13 1 4 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 11 1 0 12
Genetic Services Laboratory, University of Chicago 0 0 7 1 0 8
Inherited Neuropathy Consortium 0 0 7 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 2 6
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
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1

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