ClinVar Miner

Variants studied for Cockayne syndrome type 2

Included ClinVar conditions (4):
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 total
49 125 170 19 22 362

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 44 107 144 17 18 307
ERCC6, PGBD3 2 10 15 2 1 30
ERCC6, LOC126860933 2 7 5 0 3 17
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: 42
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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
Myriad Genetics, Inc. 0 65 0 0 0 65
Fulgent Genetics, Fulgent Genetics 9 0 17 2 0 28
Claritas Genomics 16 5 0 0 0 21
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
3billion 0 4 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 1 1 0 0 5
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
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 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
DECIPHERD-UDD, Universidad del Desarrollo 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1
Department of Animal Biology, Molecular and Human Genetics Lab, University of Tabriz 1 0 0 0 0 1

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