ClinVar Miner

Variants studied for congenital factor XI deficiency

Included ClinVar conditions (1):
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
42 113 122 11 19 1 266

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
F11 42 112 122 11 19 1 266
CYP4V2, DBET, DUX4, F11, FAT1, FRG1, FRG1-DT, FRG2, KLKB1, LINC01060, LINC01262, LINC01596, LINC02374, LINC02434, LINC02492, LINC02508, LINC02514, LINC02515, LOC101930028, LOC105377603, LOC121056755, LOC121725196, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC129389253, LOC129993527, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090718, LOC339975, MTNR1A, TRIML1, TRIML2, ZFP42 0 1 0 0 0 0 1
CYP4V2, F11, KLKB1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 56 32 2 0 0 94
Illumina Laboratory Services, Illumina 4 1 56 6 18 0 85
NIHR Bioresource Rare Diseases, University of Cambridge 9 19 13 0 0 0 41
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 6 13 15 0 0 0 32
Fulgent Genetics, Fulgent Genetics 11 5 3 1 0 0 20
Revvity Omics, Revvity Omics 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
Genome-Nilou Lab 0 1 0 3 5 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 0 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 4 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 3 1 0 0 0 5
Mendelics 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 4 0 0 0 0 4
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
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 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
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 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
3billion 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1

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