ClinVar Miner

Variants studied for congenital afibrinogenemia

Included ClinVar conditions (6):
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
32 16 185 16 31 275

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 14 13 96 8 6 135
FGB 9 0 62 5 21 95
FGG 9 3 25 3 4 43
CFI 0 0 1 0 0 1
FGG, LOC114827822 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
Illumina Laboratory Services, Illumina 0 0 95 13 29 137
Fulgent Genetics, Fulgent Genetics 7 10 74 5 2 98
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 15 0 0 16
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 5 7 0 0 14
OMIM 12 0 0 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 2 0 0 6
Genome-Nilou Lab 0 0 0 0 4 4
Biochemistry Laboratory, Bechir Hamza Children's Hospital 3 0 0 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
3billion, Medical Genetics 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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