ClinVar Miner

Variants in gene EXT1

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
249 21 107 39 29 6 430

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple congenital exostosis 209 11 90 25 21 0 349
not provided 48 10 9 14 5 0 84
Multiple exostoses type 1 16 0 2 0 1 0 19
not specified 0 0 0 4 8 6 18
Chondrosarcoma 4 0 2 0 0 0 6
Hereditary Multiple Osteochondromatosis 0 0 2 1 2 0 5
Inborn genetic diseases 1 0 1 0 0 0 2
Langer-Giedion syndrome 0 0 0 2 0 0 2
See cases 1 0 1 0 0 0 2
Malignant tumor of breast 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 205 8 62 24 13 0 312
GeneDx 41 7 3 6 1 0 58
Illumina Clinical Services Laboratory,Illumina 0 0 29 10 16 0 55
OMIM 13 0 0 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 1 8 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 0 1 0 6
ITMI 0 0 0 0 0 6 6
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 0 1 0 0 5
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 2 0 0 0 0 4
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 4 0 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Mendelics 0 0 2 0 1 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Ambry Genetics 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 2
Department of Cell Biology,School of Life Sciences, Central South University 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
ISCA site 6 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 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,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 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
Breda Genetics srl 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 0 0 0 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1

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