ClinVar Miner

Variants studied for Cockayne syndrome

Included ClinVar conditions (8):
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
107 170 531 238 76 3 1084

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC4 24 3 273 186 25 1 511
ERCC6 41 102 140 26 28 0 309
ERCC8 27 38 49 4 13 0 119
ERCC4, LOC130058543 4 0 33 16 1 0 54
ERCC6, ERCC6-PGBD3 2 10 6 1 0 0 19
ERCC6, LOC126860933 2 7 4 1 3 0 17
ERCC6, ERCC6-PGBD3, PGBD3 0 8 7 1 0 0 16
ERCC6, PGBD3 2 1 7 2 1 0 13
ERCC6, LOC130003806 0 1 7 0 2 0 10
ERCC8, NDUFAF2 2 0 4 1 3 0 10
ERCC1 0 0 0 0 0 2 2
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 0 1
DEPDC1B, ELOVL7, ERCC8 1 0 0 0 0 0 1
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 3 307 202 26 0 567
Illumina Laboratory Services, Illumina 0 0 169 28 47 0 243
Counsyl 7 58 44 6 0 0 115
Myriad Genetics, Inc. 2 76 0 0 0 0 78
Fulgent Genetics, Fulgent Genetics 13 1 18 3 0 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 12 0 0 0 0 25
Claritas Genomics 17 5 0 0 0 0 22
OMIM 12 0 1 0 0 0 13
Genome-Nilou Lab 0 0 0 0 8 0 8
Genetic Services Laboratory, University of Chicago 6 0 0 0 0 0 6
3billion 1 4 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Breda Genetics srl 2 0 1 0 0 0 3
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 0 2
Center for Medical Genetics, Keio University School of Medicine 2 0 0 0 0 0 2
Children's Hospital of Soochow University, Soochow University 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 1

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