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 established risk allele pathogenic, low penetrance risk factor not provided total
59 29 342 550 183 1 1 1 1 3 1004

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele pathogenic, low penetrance risk factor not provided total
Congenital factor V deficiency 37 11 28 442 85 0 0 0 0 0 603
Factor V deficiency 15 17 163 19 47 0 0 0 1 0 254
Budd-Chiari syndrome 0 0 144 14 40 0 0 0 0 0 198
Thrombophilia due to thrombin defect 0 0 134 25 39 0 0 0 0 0 198
not provided 7 1 46 22 124 0 0 0 0 0 193
Thrombophilia due to activated protein C resistance 5 2 131 50 3 0 1 1 0 3 192
Inborn genetic diseases 1 0 88 66 0 0 0 0 0 0 155
F5-related condition 0 1 21 12 2 0 0 0 0 0 36
not specified 1 0 3 2 30 0 0 0 0 0 35
Factor V deficiency; Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1 0 0 1 4 1 0 0 0 0 0 6
Thromboembolism 0 0 3 0 0 0 0 0 0 0 3
Abnormal bleeding; Thrombocytopenia 0 0 2 0 0 0 0 0 0 0 2
Cholesteatoma 0 0 2 0 0 0 0 0 0 0 2
Hemorrhage 0 0 2 0 0 0 0 0 0 0 2
Abnormal bleeding 0 0 1 0 0 0 0 0 0 0 1
Aganglionic megacolon 0 0 1 0 0 0 0 0 0 0 1
Budd-Chiari syndrome, susceptibility to 0 0 0 0 0 0 0 0 1 0 1
Deep venous thrombosis; Thromboembolism 0 0 1 0 0 0 0 0 0 0 1
Factor V Hong Kong 1 0 0 0 0 0 0 0 0 0 1
Factor V deficiency; Thrombophilia due to activated protein C resistance 1 0 0 0 0 0 0 0 0 0 1
Ischemic stroke 0 0 0 0 0 0 0 0 1 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 0 0 0 1
Pregnancy loss, recurrent, susceptibility to, 1 0 0 0 0 0 0 0 0 1 0 1
Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process 0 0 1 0 0 0 0 0 0 0 1
Thrombus 0 0 1 0 0 0 0 0 0 0 1
hormonal contraceptives for systemic use response - Toxicity 0 0 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele pathogenic, low penetrance risk factor not provided total
Invitae 37 11 28 452 86 0 0 0 0 0 614
Illumina Laboratory Services, Illumina 1 1 151 67 47 0 0 0 0 0 207
Ambry Genetics 1 0 88 66 0 0 0 0 0 0 155
GeneDx 2 1 19 0 122 0 0 0 0 0 144
PreventionGenetics, part of Exact Sciences 0 1 21 13 32 0 0 0 0 0 67
CeGaT Center for Human Genetics Tuebingen 2 0 15 14 3 0 0 0 0 0 34
NIHR Bioresource Rare Diseases, University of Cambridge 1 11 10 0 0 0 0 0 0 0 21
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 3 4 14 0 0 0 0 0 0 0 21
OMIM 14 0 0 0 0 0 0 0 1 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 11 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 11 0 0 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 8 1 0 0 0 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 6 0 0 0 1 0 0 0 8
Revvity Omics, Revvity 0 0 6 0 0 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 1 4 1 0 0 0 0 0 6
Baylor Genetics 2 0 1 0 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 0 0 1 0 3
Mendelics 1 0 1 1 0 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 0 0 0 3 3
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 3 0 0 0 0 0 0 0 0 0 3
3billion 1 0 2 0 0 0 0 0 0 0 3
Birmingham Platelet Group; University of Birmingham 0 0 2 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 1 0 0 0 0 0 0 0 2
Phenosystems SA 0 0 2 0 0 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 0 0 0 0 2
Natera, Inc. 0 0 0 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 0 0 0 1
Variantyx, Inc. 0 0 0 0 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 0 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 0 1

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