ClinVar Miner

Variants studied for secondary avascular necrosis

Included ClinVar conditions (7):
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
187 117 157 106 22 1 516

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SERPINC1 101 71 125 101 17 0 355
GBA1, LOC106627981 60 45 20 5 2 1 119
HRG 1 0 6 0 3 0 10
GBA1 4 0 3 0 0 0 7
HRG, LOC126806897 2 0 2 0 0 0 4
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 3
LOC126805923, SERPINC1, ZBTB37 2 0 0 0 0 0 2
RC3H1, SERPINC1 2 0 0 0 0 0 2
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 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 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 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 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 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 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 1
GBA1, THBS3 0 0 1 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 1
LOC122149309, LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 0 1
LOC126805923, LOC126805924, RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 0 1
LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 1
RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 21 65 91 14 0 238
OMIM 78 0 1 0 0 0 79
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 22 8 24 16 6 0 76
Fulgent Genetics, Fulgent Genetics 25 10 21 5 1 0 62
Baylor Genetics 21 9 3 0 0 0 32
Servicio de Hematología y Oncología médica, Universidad de Murcia 30 0 0 0 0 0 30
Illumina Laboratory Services, Illumina 4 0 17 2 4 0 27
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 11 14 0 0 0 27
NIHR Bioresource Rare Diseases, University of Cambridge 0 20 5 0 0 0 25
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 10 10 1 0 0 0 21
Genome-Nilou Lab 1 3 7 0 8 0 19
Juno Genomics, Hangzhou Juno Genomics, Inc 5 4 5 0 0 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 0 6 0 0 0 12
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 6 1 0 0 0 11
Myriad Genetics, Inc. 6 3 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 3 0 0 0 0 8
CSER _CC_NCGL, University of Washington 0 0 4 2 0 0 6
Centogene AG - the Rare Disease Company 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 0 4
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2 2 0 0 0 0 4
Revvity Omics, Revvity 0 2 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 1 1 0 0 0 3
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 1 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 0 0 0 2
3billion, Medical Genetics 0 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Counsyl 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1

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