ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4B2

Included ClinVar conditions (2):
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
8 6 127 18 29 4 190

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SBF2 4 4 67 5 22 2 104
LOC101928008, SBF2 2 2 30 9 5 1 48
LOC105369149, SBF2 2 0 22 4 2 1 30
LOC130005303, SBF2 0 0 8 0 0 0 8

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 105 8 24 0 137
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 9 6 0 23
Fulgent Genetics, Fulgent Genetics 0 0 5 1 1 0 7
Baylor Genetics 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1

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