ClinVar Miner

Variants in gene GNB4

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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
3 4 145 134 36 1 303

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease dominant intermediate F 3 4 122 109 13 1 248
not provided 0 1 15 18 25 0 58
Inborn genetic diseases 0 0 22 17 1 0 40
not specified 0 0 5 3 3 0 11
GNB4-related disorder 0 0 0 2 1 0 3
See cases 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 3 117 107 13 0 242
GeneDx 0 0 6 17 24 0 47
Ambry Genetics 0 0 22 17 1 0 40
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 9 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 3 1 0 9
CeGaT Center for Human Genetics Tuebingen 0 1 3 2 2 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 4 2 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
PreventionGenetics, part of Exact Sciences 0 0 0 2 3 0 5
OMIM 2 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Division of Genomics, Kyushu university 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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