ClinVar Miner

Variants studied for Coffin-Siris syndrome 10

Coded as:
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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 total
9 6 18 2 0 34

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SOX4 9 6 17 2 33
LOC129995966, SOX4 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 2 3
New York Genome Center 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 2
3billion 0 0 2 0 2
Baylor Genetics 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 1
Mendelics 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 1

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