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
26 8 122 16 31 198

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
FGB 9 0 60 5 21 93
FGA 9 6 36 8 6 63
FGG 8 2 24 3 4 40
CFI 0 0 1 0 0 1
FGG, LOC114827822 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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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 5 3 4 5 2 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Genome-Nilou Lab 0 0 0 0 4 4
Biochemistry Laboratory, Bechir Hamza Children's Hospital 3 0 0 0 0 3
Mendelics 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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 0 0 1 0 0 1

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