ClinVar Miner

Variants in gene EXT2

Minimum submission review status: Collection method:
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Gene type:
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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
110 7 109 54 49 18 302

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple exostoses type 2 95 2 94 48 40 1 257
not provided 24 1 15 10 4 1 54
not specified 0 0 0 3 12 17 28
Seizures, scoliosis, and macrocephaly syndrome 6 2 5 0 0 0 10
See cases 0 2 1 1 0 0 4
Multiple exostoses type 2; Seizures, scoliosis, and macrocephaly syndrome 2 0 1 0 0 0 3
Hereditary Multiple Osteochondromatosis 0 0 1 0 0 0 1
Hereditary cancer-predisposing syndrome 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 0 51 31 21 0 188
Illumina Clinical Services Laboratory,Illumina 0 0 39 24 31 0 94
GeneDx 19 1 3 2 2 1 28
ITMI 0 0 0 0 0 17 17
OMIM 14 0 0 0 0 0 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 9 0 4 0 13
PreventionGenetics, PreventionGenetics 0 0 0 1 8 0 9
Baylor Genetics 0 0 6 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 2 0 0 0 6
Mendelics 0 1 1 1 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
ISCA site 1 0 1 1 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 1 0 3
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 3 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
ISCA site 14 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Marseille Medical Genetics, U1251,Aix Marseille University, Inserm 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1

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