ClinVar Miner

Variants studied for Hereditary factor IX deficiency disease

Coded as:
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
144 67 33 31 20 3 278

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
F9 115 41 30 31 20 3 221
F8 29 26 3 0 0 0 58

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 91 0 0 0 0 0 91
NIHR Bioresource Rare Diseases, University of Cambridge 32 27 3 0 0 0 62
Natera, Inc. 3 0 5 25 7 0 40
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 12 6 4 0 10 0 32
Illumina Laboratory Services, Illumina 0 0 13 8 8 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 10 0 0 0 0 27
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 13 3 0 0 0 0 16
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 6 3 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 2 4 0 0 0 0 6
3billion 3 2 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 2 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 0 3 0 0 0 0 3
Genome-Nilou Lab 0 1 0 1 1 0 3
GeneReviews 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
SNPedia 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1

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