ClinVar Miner

Variants in gene F8

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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
307 68 46 25 26 451

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary factor VIII deficiency disease 277 24 13 1 16 328
not provided 22 12 14 10 10 66
Hereditary factor IX deficiency disease 29 26 3 0 0 58
Hemophilia A, FVIII Deficiency 0 0 9 12 4 25
not specified 6 1 3 3 6 19
Abnormality of coagulation 2 3 4 0 0 9
FACTOR VIII POLYMORPHISM 0 0 0 0 2 2
Abnormal bleeding 0 1 0 0 0 1
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: 20
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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 50 25 15 2 16 108
NIHR Bioresource Rare Diseases, University of Cambridge 31 31 7 0 0 68
Illumina Clinical Services Laboratory,Illumina 0 0 10 12 4 26
Invitae 0 0 0 8 9 17
Mendelics 3 4 3 0 3 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 1 0 10
PreventionGenetics,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 1 1 0 1 3
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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