ClinVar Miner

Variants in gene F11

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 not provided total
48 82 127 56 24 42 316

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary factor XI deficiency disease 31 74 103 7 18 1 211
not provided 27 8 9 46 8 41 137
Plasma factor XI deficiency 4 3 23 8 3 0 41
not specified 0 0 0 2 5 0 7
Abnormal bleeding 3 0 1 0 0 0 4
Abnormal bleeding; Thrombocytopenia 1 0 0 0 0 0 1
Cerebral hemorrhage 0 1 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
Hereditary factor X deficiency disease 0 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 56 33 2 0 0 95
Illumina Clinical Services Laboratory,Illumina 4 1 56 6 18 0 85
Invitae 22 4 0 44 8 0 78
NIHR Bioresource Rare Diseases, University of Cambridge 12 20 14 0 0 0 46
Natera, Inc. 4 3 23 8 3 0 41
UniProtKB/Swiss-Prot 0 0 0 0 0 41 41
OMIM 16 0 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 3 4 0 0 13
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 2 1 0 0 10
Fulgent Genetics,Fulgent Genetics 6 2 0 0 0 0 8
GeneDx 3 2 2 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 1 5 0 6
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 1 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Birmingham Platelet Group; University of Birmingham 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 1 0 0 0 0 1
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.