ClinVar Miner

Variants in gene GFI1

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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 not provided total
0 0 277 181 35 5 455

Condition and significance breakdown #

Total conditions: 7
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Condition uncertain significance likely benign benign not provided total
Neutropenia, severe congenital, 2, autosomal dominant 165 112 31 1 305
not specified 170 92 12 0 274
not provided 14 16 17 4 41
GFI1-related disorder 2 12 4 0 18
Nonimmune chronic idiopathic neutropenia of adults; Neutropenia, severe congenital, 2, autosomal dominant 4 5 1 0 10
Severe congenital neutropenia 8 0 2 0 9
Nonimmune chronic idiopathic neutropenia of adults 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 161 109 31 0 301
Ambry Genetics 165 87 0 0 252
PreventionGenetics, part of Exact Sciences 2 17 8 0 27
Genetic Services Laboratory, University of Chicago 12 9 4 0 25
GeneDx 5 0 12 0 17
Breakthrough Genomics, Breakthrough Genomics 1 6 7 0 14
Illumina Laboratory Services, Illumina 9 0 2 0 10
CeGaT Center for Human Genetics Tuebingen 3 7 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 7 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 2 0 6
Fulgent Genetics, Fulgent Genetics 2 3 1 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 5 1 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3 2 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 0 4
GenomeConnect, ClinGen 0 0 0 4 4
Mendelics 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 1 0 3
Baylor Genetics 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 2
Revvity Omics, Revvity 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Blueprint Genetics 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1
Genome-Nilou Lab 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 1 1

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