ClinVar Miner

Variants studied for inherited thrombophilia

Included ClinVar conditions (31):
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 association established risk allele pathogenic, low penetrance protective risk factor not provided total
409 259 882 632 154 1 1 1 1 3 9 2121

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele pathogenic, low penetrance protective risk factor not provided total
PROS1 67 42 207 153 25 0 0 0 0 1 1 461
F9 87 30 35 181 39 1 0 0 0 0 0 360
PROC 63 64 152 112 21 0 0 0 0 0 0 359
SERPINC1 101 71 130 101 17 0 0 0 0 0 0 358
F5 7 12 161 69 42 0 1 1 0 0 3 241
THBD 5 5 97 3 0 0 0 0 0 0 0 110
F8 37 14 11 1 1 0 0 0 0 0 0 60
F2 5 3 42 5 3 0 0 0 0 0 5 57
MTHFR 5 17 17 4 2 0 0 0 0 0 0 43
PI4KA, SERPIND1 4 0 10 1 1 0 0 0 0 0 0 15
HRG 1 0 9 0 3 0 0 0 0 0 0 13
F13A1 2 0 7 0 0 0 0 0 1 0 0 10
HRG, LOC126806897 2 0 2 0 0 0 0 0 0 0 0 4
HABP2 0 0 0 2 0 0 0 0 0 1 0 3
LOC122149309, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129388638, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, ZBTB37 3 0 0 0 0 0 0 0 0 0 0 3
LOC126805923, SERPINC1, ZBTB37 2 0 0 0 0 0 0 0 0 0 0 2
RC3H1, SERPINC1 2 0 0 0 0 0 0 0 0 0 0 2
AMMECR1L, BIN1, CYP27C1, ERCC3, GPR17, HS6ST1, IWS1, LIMS2, MAP3K2, MYO7B, POLR2D, PROC, SAP130, SFT2D3, UGGT1, WDR33 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD45, CACYBP, CENPL, COP1, DARS2, GAS5, GPR52, KIAA0040, KLHL20, LINC01657, LOC105371622, LOC112577515, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, MIR1843, MRPS14, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SCARNA3, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TNN, TNR, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD45, CACYBP, CENPL, DARS2, GAS5, GPR52, KIAA0040, KLHL20, LOC105371622, LOC112577515, LOC115801455, LOC122149309, LOC122149310, LOC122149311, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, MRPS14, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TEX50, TNN, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD45, CENPL, DARS2, GAS5, GPR52, KLHL20, LOC100506023, LOC112577515, LOC115801455, LOC120893168, LOC121725064, LOC122149307, LOC122149308, LOC122149309, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, PRDX6, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TEX50, TNFSF18, TNFSF4, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 1 0 0 0 0 0 0 0 0 0 0 1
ARL13B, LOC123002313, LOC129937098, LOC129937099, PROS1, STX19 1 0 0 0 0 0 0 0 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 0 0 0 0 0 1
ATP11C, CXorf66, F9, MCF2, SOX3 1 0 0 0 0 0 0 0 0 0 0 1
ATP11C, F9, MCF2 0 0 1 0 0 0 0 0 0 0 0 1
CENPL, DARS2, GAS5, LOC122149309, LOC126805922, LOC126805923, LOC126805924, LOC129388635, LOC129388636, LOC129388637, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
DARS2, GAS5, GPR52, LOC112577515, LOC122149309, LOC126805922, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129388638, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
DARS2, GAS5, LOC126805922, LOC126805923, LOC126805924, LOC129931940, LOC129931941, RC3H1, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
EIF4G3 0 1 0 0 0 0 0 0 0 0 0 1
FGA 0 0 0 0 0 0 0 0 0 1 0 1
GAS5, LOC126805922, LOC126805923, LOC129931940, LOC129931941, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
LOC122149309, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, LOC129931945, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
LOC122149309, LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 0 0 0 0 0 0 1
LOC126805923, LOC126805924, RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1
LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 0 0 0 0 0 0 1
RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele pathogenic, low penetrance protective risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 227 69 319 508 97 1 0 0 0 0 0 1221
Illumina Laboratory Services, Illumina 6 1 286 95 50 0 0 0 0 0 0 391
Fulgent Genetics, Fulgent Genetics 34 54 154 23 7 0 0 0 0 0 0 272
OMIM 98 0 2 0 0 0 0 0 1 2 0 103
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 5 34 58 0 1 0 0 0 0 0 0 98
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 22 8 27 16 6 0 0 0 0 0 0 79
Mendelics 35 2 9 0 5 0 0 0 0 0 0 51
NIHR Bioresource Rare Diseases, University of Cambridge 0 38 8 0 0 0 0 0 0 0 0 46
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 36 3 2 0 1 0 0 0 0 46
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 13 26 6 0 0 0 0 0 0 0 0 45
CSER _CC_NCGL, University of Washington 1 3 23 3 0 0 0 0 0 0 0 30
Servicio de Hematología y Oncología médica, Universidad de Murcia 30 0 0 0 0 0 0 0 0 0 0 30
Juno Genomics, Hangzhou Juno Genomics, Inc 6 13 9 0 0 0 0 0 0 0 0 28
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 9 1 9 0 0 0 0 0 0 0 0 19
Genome-Nilou Lab 0 0 0 0 12 0 0 0 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 7 0 2 0 0 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 4 3 0 0 0 0 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 1 0 9 0 0 0 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 2 5 2 0 0 0 0 0 0 0 0 9
Baylor Genetics 4 1 3 0 0 0 0 0 0 0 0 8
GeneReviews 0 0 0 0 0 0 0 0 0 0 8 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 0 0 0 0 0 0 0 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 0 0 0 0 0 6
3billion 2 3 1 0 0 0 0 0 0 0 0 6
Revvity Omics, Revvity 0 2 3 0 0 0 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 0 0 0 0 0 0 0 5
MGZ Medical Genetics Center 2 2 0 0 0 0 0 0 0 0 0 4
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 3 0 0 0 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 0 0 0 0 0 2
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel 0 1 1 0 0 0 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 0 0 0 0 0 2
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 0 2 0 0 0 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 0 0 0 0 0 1
Counsyl 1 0 0 0 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 0 0 0 1
Russ Altman Lab, Stanford University 0 0 0 0 0 0 0 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 0 0 0 1
Variantyx, Inc. 0 0 0 0 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 1 0 0 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 0 0 0 0 1

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