ClinVar Miner

Variants studied for Coffin-Siris syndrome 6

Included ClinVar conditions (2):
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
50 22 39 5 3 1 117

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARID2 42 21 36 4 3 1 104
ARID2, LOC130007728 4 1 2 1 0 0 8
ARID2, LINC00938, LOC130007727, LOC130007728 2 0 0 0 0 0 2
ANO6, ARID2, LINC00938, LOC113939936, LOC121832833, LOC126861513, LOC126861514, LOC129390447, LOC130007726, LOC130007727, LOC130007728, LOC130007729, LOC130007730, LOC130007731, LOC130007732, LOC130007733, LOC130007734, LOC130007735, LOC130007736, LOC130007737, LOC130007738, LOC130007739, LOC130007740, LOC130007741, LOC130007742, LOC130007743, SCAF11, SLC38A1 1 0 0 0 0 0 1
ARID2, SCAF11 1 0 0 0 0 0 1
GIGYF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genetics Department, University Hospital of Angers 18 2 3 1 0 0 24
Baylor Genetics 5 4 5 0 0 0 14
Revvity Omics, Revvity 0 0 12 0 0 0 12
OMIM 7 0 0 0 0 0 7
3billion, Medical Genetics 1 4 0 1 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 0 3 1 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 4
Laboratoire de Cytogenomique, Chu Angers 4 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 1 0 3
New York Genome Center 0 0 3 0 0 0 3
Mendelics 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1

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