ClinVar Miner

Variants studied for Cockayne syndrome type 2

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
54 153 177 19 22 398

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ERCC6 48 126 148 17 18 331
ERCC6, PGBD3 2 16 18 2 1 39
ERCC6, LOC126860933 3 10 5 0 3 20
ERCC6, LOC130003806 0 1 6 0 0 7
AGAP6, ARHGAP22, ASAH2, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FRMPD2, LRRC18, MAPK8, MSMB, NCOA4, OGDHL, PARG, PGBD3, SGMS1, SLC18A3, TIMM23, TMEM273, VSTM4, WASHC2A, WDFY4 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 125 11 15 151
Counsyl 4 40 29 6 0 79
Fulgent Genetics, Fulgent Genetics 18 27 21 2 0 68
Myriad Genetics, Inc. 0 65 0 0 0 65
Claritas Genomics 16 5 0 0 0 21
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 10 0 0 12
3billion 1 6 1 0 0 8
OMIM 7 0 1 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 3 0 0 8
Genome-Nilou Lab 0 0 0 0 7 7
Genetic Services Laboratory, University of Chicago 6 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 5 1 0 0 0 6
Baylor Genetics 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 2 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 1
Department of Animal Biology, Molecular and Human Genetics Lab, University of Tabriz 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 1

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