ClinVar Miner

Variants in gene F8

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 total
282 17 21 15 16 343

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary factor VIII deficiency disease 261 4 2 0 4 270
not provided 27 11 7 1 6 51
not specified 9 1 3 3 10 26
Hemophilia A, FVIII Deficiency 0 0 9 12 4 25
FACTOR VIII POLYMORPHISM 0 0 0 0 2 2
FACTOR VIII (EAST HARTFORD) 1 0 0 0 0 1
FACTOR VIII (OKAYAMA) 1 0 0 0 0 1
HEMOPHILIA A, MILD 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 260 0 0 0 2 262
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 33 11 7 1 12 64
Illumina Clinical Services Laboratory,Illumina 0 0 10 12 4 26
PreventionGenetics 0 0 0 3 4 7
GeneDx 4 0 1 0 0 5
GeneReviews 0 0 0 0 4 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 1 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Molecular Genetics and Enzymology,National Research Centre 2 0 0 0 0 2
Ambry Genetics 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 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.