ClinVar Miner

Variants studied for familial dysfibrinogenemia

Included ClinVar conditions (10):
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
45 32 200 15 31 311

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGA 19 19 99 8 6 146
FGB 10 2 68 4 21 104
FGG 16 11 31 3 4 59
CFI 0 0 1 0 0 1
FGG, LOC114827822 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 95 12 29 136
Fulgent Genetics, Fulgent Genetics 7 10 74 5 2 98
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 3 7 12 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 4 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 15 0 0 16
OMIM 15 0 0 0 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 12 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 6 2 3 0 0 11
Genetics and Molecular Pathology, SA Pathology 2 2 1 0 0 5
Biochemistry Laboratory, Bechir Hamza Children's Hospital 4 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
3billion 0 1 3 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Mendelics 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 1
Reproductive Medicine Center, The First Hospital of Lanzhou University 0 0 1 0 0 1

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