ClinVar Miner

Variants in gene CHST3

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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 total
19 4 178 41 34 262

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spondyloepiphyseal dysplasia with congenital joint dislocations 18 1 170 37 33 248
Larsen syndrome 1 0 92 31 20 144
Skeletal dysplasia 0 0 92 31 20 143
Spondyloepiphyseal dysplasia congenita 0 0 92 31 20 143
not provided 1 3 9 4 0 16
not specified 0 0 0 0 7 7

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 149 32 25 206
Invitae 0 1 20 9 10 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 7 0 7 14
OMIM 13 0 0 0 0 13
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 0 0 0 0 3
GeneDx 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1

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