ClinVar Miner

Variants in gene F11

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Gene type:
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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 not provided total
105 143 211 262 66 42 692

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 80 37 35 246 63 41 481
Hereditary factor XI deficiency disease 53 118 122 11 19 1 280
Plasma factor XI deficiency 13 4 25 17 11 0 70
Inborn genetic diseases 1 0 29 4 0 0 34
not specified 0 0 21 2 5 0 28
F11-related disorder 8 3 3 11 1 0 26
Abnormal bleeding 3 0 1 0 0 0 4
Abnormal bleeding; Thrombocytopenia 1 0 0 0 0 0 1
Coagulation factor deficiency syndrome 0 1 0 0 0 0 1
Factor XI 1 0 0 0 0 0 1
Factor XI deficiency 0 1 0 0 0 0 1
Hereditary factor X deficiency disease 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 77 22 2 240 23 0 364
Counsyl 4 56 32 2 0 0 94
Illumina Laboratory Services, Illumina 5 1 51 6 18 0 81
GeneDx 8 6 18 0 41 0 73
Natera, Inc. 13 4 25 17 11 0 70
NIHR Bioresource Rare Diseases, University of Cambridge 12 20 14 0 0 0 46
UniProtKB/Swiss-Prot 0 0 0 0 0 41 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 11 20 0 0 0 39
Ambry Genetics 1 0 29 4 0 0 34
PreventionGenetics, part of Exact Sciences 8 3 3 12 6 0 32
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 6 12 15 0 0 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 2 9 20 0 31
Mayo Clinic Laboratories, Mayo Clinic 8 9 6 0 0 0 23
Fulgent Genetics, Fulgent Genetics 11 5 3 1 0 0 20
Revvity Omics, Revvity 9 9 1 0 0 0 19
OMIM 16 0 0 0 0 0 16
Myriad Genetics, Inc. 0 14 2 0 0 0 16
Eurofins Ntd Llc (ga) 6 1 2 1 0 0 10
CeGaT Center for Human Genetics Tuebingen 2 1 3 2 1 0 9
Genome-Nilou Lab 0 1 0 3 5 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 5 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 2 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 1 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 4 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 3 2 0 0 0 6
Mendelics 4 0 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 1 0 4
Genetics and Molecular Pathology, SA Pathology 0 4 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Birmingham Platelet Group; University of Birmingham 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1

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