ClinVar Miner

Variants studied for thrombophilia due to thrombin defect

Included ClinVar conditions (7):
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 protective risk factor not provided total
6 9 184 36 42 1 2 5 279

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
F5 0 0 134 25 39 0 0 0 198
F2 3 1 37 5 3 0 0 5 48
MTHFR 3 8 10 4 0 0 0 0 25
F13A1 0 0 3 0 0 1 0 0 4
HABP2 0 0 0 2 0 0 1 0 3
FGA 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 165 30 40 0 0 0 235
Fulgent Genetics, Fulgent Genetics 2 5 7 6 1 0 0 0 21
OMIM 2 0 0 0 0 1 2 0 5
GeneReviews 0 0 0 0 0 0 0 5 5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 1 3 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 0 0 3
Mendelics 1 0 1 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 0 1
Counsyl 1 0 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1

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