ClinVar Miner

Variants studied for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (11):
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 pathogenic, low penetrance risk factor not provided total
79 75 330 243 68 1 1 3 758

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
F2 24 7 42 201 18 1 1 0 277
GGCX 4 3 127 16 29 0 0 1 180
F7 31 43 95 8 6 0 0 2 165
F10 18 21 44 3 7 0 0 0 88
VKORC1 1 0 13 4 5 0 0 0 23
F10, F7 0 0 0 10 2 0 0 0 12
GGCX, MAT2A 0 0 6 1 1 0 0 0 8
GGCX, LOC129934217 0 0 3 0 0 0 0 0 3
ADPRHL1, ANKRD10, ARHGEF7, ATP11A, ATP11AUN, ATP4B, C13orf46, CARS2, CDC16, CFAP97D2, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, GAS6, GAS6-DT, GRK1, GRTP1, ING1, IRS2, LAMP1, LINC00354, LINC00368, LINC00370, LINC00396, LINC00399, LINC00404, LINC00431, LINC00452, LINC00454, LINC00552, LINC00567, LINC00676, LINC01043, LINC01044, LINC01070, LINC02337, LINC03032, LINC03061, LINC03082, LOC100506016, LOC101060553, LOC101928730, LOC102725228, LOC105370362, LOC107992391, LOC110121336, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC116268457, LOC121468007, LOC121838584, LOC124946339, LOC124946340, LOC124946341, LOC124946342, LOC124946343, LOC124946344, LOC124946345, LOC124946346, LOC124946347, LOC124946348, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, LOC126861861, LOC126861862, LOC126861863, LOC126861864, LOC126861865, LOC126861866, LOC126861867, LOC126861868, LOC126861869, LOC126861870, LOC126861871, LOC126861872, LOC126861873, LOC126861874, LOC126861875, LOC126861876, LOC126861877, LOC128772388, LOC128772389, LOC128772390, LOC128772391, LOC128772392, LOC128772393, LOC129390610, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC130010105, LOC130010106, LOC130010107, LOC130010108, LOC130010109, LOC130010110, LOC130010111, LOC130010112, LOC130010113, LOC130010114, LOC130010115, LOC130010116, LOC130010117, LOC130010118, LOC130010119, LOC130010120, LOC130010121, LOC130010122, LOC130010123, LOC130010124, LOC130010125, LOC130010126, LOC130010127, LOC130010128, LOC130010129, LOC130010130, LOC130010131, LOC130010132, LOC130010133, LOC130010134, LOC130010135, LOC130010136, LOC130010137, LOC130010138, LOC130010139, LOC130010140, LOC130010141, LOC130010142, LOC130010143, LOC130010144, LOC130010145, LOC130010146, LOC130010147, LOC130010148, LOC130010149, LOC130010150, LOC130010151, LOC130010152, LOC130010153, LOC130010154, LOC130010155, LOC130010156, LOC130010157, LOC130010158, LOC130010159, LOC130010160, LOC130010161, LOC130010162, LOC130010163, LOC130010164, LOC130010165, LOC130010166, LOC130010167, LOC130010168, LOC130010169, LOC130010170, LOC130010171, LOC130010172, LOC130010173, LOC130010174, LOC130010175, LOC130010176, LOC130010177, LOC130010178, LOC130010179, LOC130010180, LOC130010181, LOC130010182, LOC130010183, LOC130010184, LOC130010185, LOC130010186, LOC130010187, LOC130010188, LOC130010189, LOC130010190, LOC130010191, LOC130010192, LOC130010193, LOC130010194, LOC130010195, LOC130010196, LOC130010197, LOC130010198, LOC130010199, LOC130010200, LOC130010201, LOC130010202, LOC130010203, LOC130010204, LOC130010205, LOC130010206, LOC130010207, LOC130010208, LOC130010209, LOC130010210, LOC130010211, LOC130010212, LOC130010213, LOC130010214, LOC130010215, LOC130010216, LOC130010217, LOC130010218, LOC130494219, LOC132090172, LOC132090173, LOC132090174, MCF2L, MIR4502, MIR548AR, MIR8073, MIR8075, MYO16, NAXD, PCID2, PRECSIT, PROZ, RAB20, RASA3, RASA3-IT1, SOX1, SOX1-OT, SPACA7, SWINGN, TEX29, TFDP1, TMCO3, TMEM255B, TUBGCP3, UPF3A 1 0 0 0 0 0 0 0 1
ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, CARS2, COL4A1, COL4A2, F10, F7, ING1, LINC00567, MCF2L, NAXD, RAB20, SOX1, SPACA7, TEX29, TUBGCP3 0 1 0 0 0 0 0 0 1
F11 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
Illumina Laboratory Services, Illumina 3 1 265 41 57 0 0 0 367
Invitae 11 2 10 199 16 1 0 0 239
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 6 25 23 0 0 0 0 0 54
OMIM 51 0 0 0 0 0 0 0 51
NIHR Bioresource Rare Diseases, University of Cambridge 2 22 9 0 0 0 0 0 33
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 7 17 2 0 0 0 0 29
Fulgent Genetics, Fulgent Genetics 3 4 2 1 1 0 0 0 11
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 7 0 0 0 0 0 0 7
Baylor Genetics 1 2 2 0 0 0 0 0 5
Revvity Omics, Revvity 2 1 2 0 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 4 0 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 3 1 1 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 3 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 0 0 2
3billion 1 1 0 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 0 0 1 0 1
New York Genome Center 0 1 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1

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