ClinVar Miner

Variants studied for hereditary multiple osteochondromas

Included ClinVar conditions (5):
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
525 62 595 379 90 1 1591

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 not provided total
EXT1 364 36 261 167 29 0 836
EXT2 154 24 293 189 52 1 674
EXT2, LOC126861201 3 2 32 22 1 0 59
EXT2, LOC130005598 0 0 3 0 6 0 9
EXT1, LOC130001002 0 0 4 1 2 0 7
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, LINC00536, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, TRPS1, UTP23 0 0 1 0 0 0 1
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, UTP23 0 0 1 0 0 0 1
ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, MAL2, MED30, MRPL13, MTBP, MTSS1, NDUFB9, NSMCE2, NTAQ1, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 1
CCN3, COL14A1, COLEC10, DEPTOR, DSCC1, ENPP2, EXT1, MAL2, MRPL13, MTBP, SAMD12, SNTB1, TAF2, TNFRSF11B 1 0 0 0 0 0 1
EXT1, LOC124188206 1 0 0 0 0 0 1
EXT2, LOC130005600, LOC130005601 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 484 25 474 347 61 0 1391
Illumina Laboratory Services, Illumina 0 0 64 33 45 0 142
Baylor Genetics 3 6 95 0 0 0 104
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 2 24 0 0 0 27
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 9 16 0 25
OMIM 20 0 0 0 0 0 20
Fulgent Genetics, Fulgent Genetics 6 1 5 4 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 9 2 0 0 0 0 11
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 9 2 0 0 0 0 11
Mendelics 1 0 2 3 1 0 7
Institute of Human Genetics, University of Leipzig Medical Center 4 2 1 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 0 1 0 0 6
3billion 2 2 0 2 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 2 1 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 4
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Department of Human Genetics, Hannover Medical School 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 0 2 0 0 0 0 2
Department of Cell Biology, School of Life Sciences, Central South University 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 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 1
Neurogenetics, Research Centre for Medical Genetics 0 0 0 1 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 1

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