ClinVar Miner

Variants studied for Exostoses, multiple, type 1

Coded as:
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 total
29 9 11 10 16 75

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 total
EXT1 28 9 11 6 7 61
EXT2 0 0 0 4 9 13
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 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 9 16 25
OMIM 11 0 0 0 0 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 5 0 0 6
Mendelics 1 0 2 0 1 4
3billion 2 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 3 0 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 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 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Research and Counseling Department, Research Centre for Medical Genetics 0 0 0 1 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 1

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