ClinVar Miner

Variants in gene EXT1

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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
103 16 34 17 16 6 186

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple congenital exostosis 75 8 6 0 2 0 90
not provided 36 8 8 3 2 0 57
Hereditary Multiple Osteochondromatosis 0 0 18 13 9 0 40
not specified 0 0 0 4 8 6 18
Langer-Giedion syndrome 0 0 0 2 0 0 2
See cases 1 0 1 0 0 0 2
Chondrosarcoma 1 0 0 0 0 0 1
Chondrosarcoma, sporadic 1 0 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 64 7 6 0 2 0 79
GeneDx 36 7 3 6 1 0 53
Illumina Clinical Services Laboratory,Illumina 0 0 18 13 9 0 40
OMIM 12 0 0 0 0 0 12
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Ambry Genetics 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 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
Breda Genetics srl 1 0 0 0 0 0 1

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