ClinVar Miner

Variants in gene F5

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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 drug response risk factor total
22 16 195 125 71 1 1 326

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor total
Factor V deficiency 13 14 155 41 60 0 1 263
Budd-Chiari syndrome 0 0 144 14 40 0 0 198
Thrombophilia due to thrombin defect 0 0 134 25 39 0 0 198
Thrombophilia due to factor V Leiden 4 0 126 50 3 0 0 183
not provided 5 2 32 38 2 0 0 77
not specified 1 0 0 2 30 0 0 32
Thromboembolism 0 0 3 0 0 0 0 3
Abnormal bleeding; Thrombocytopenia 0 0 2 0 0 0 0 2
Abnormal bleeding 0 0 1 0 0 0 0 1
Budd-Chiari syndrome, susceptibility to 0 0 0 0 0 0 1 1
Deep venous thrombosis; Thromboembolism 0 0 1 0 0 0 0 1
Factor V Hong Kong 1 0 0 0 0 0 0 1
Factor V deficiency; Ischemic stroke, susceptibility to; Thrombophilia due to factor V Leiden; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1 0 0 1 0 0 0 0 1
Factor V deficiency; Thrombophilia due to factor V Leiden 1 0 0 0 0 0 0 1
Hirschsprung disease 0 0 1 0 0 0 0 1
Ischemic stroke, susceptibility to 0 0 0 0 0 0 1 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
Pregnancy loss, recurrent, susceptibility to, 1 0 0 0 0 0 0 1 1
hormonal contraceptives for systemic use response - Toxicity/ADR 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor total
Illumina Clinical Services Laboratory,Illumina 1 1 151 67 47 0 0 207
Invitae 1 0 4 56 23 0 0 84
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 26 9 0 0 0 37
PreventionGenetics, PreventionGenetics 0 0 0 1 30 0 0 31
NIHR Bioresource Rare Diseases, University of Cambridge 1 11 10 0 0 0 0 21
OMIM 14 0 0 0 0 0 1 14
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 1 1 8 1 0 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 6 0 0 0 0 7
GeneDx 2 1 2 0 1 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 0 0 1 3
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 3 0 0 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 2
Mendelics 0 0 1 1 0 0 0 2
Birmingham Platelet Group; University of Birmingham 0 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 0 2
Natera, Inc. 0 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 1

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