ClinVar Miner

Variants studied for Cockayne syndrome

Included ClinVar conditions (11):
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 not provided total
136 224 606 291 61 3 1273

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC4 31 4 331 247 25 1 638
ERCC6 51 134 150 17 18 0 342
ERCC8 40 59 53 3 13 0 150
ERCC4, LOC130058543 4 0 38 22 1 0 65
ERCC6, PGBD3 2 16 18 2 1 0 39
ERCC6, LOC126860933 3 10 5 0 3 0 20
ERCC6, LOC130003806 0 1 6 0 0 0 7
ERCC8, NDUFAF2 2 0 4 0 0 0 6
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: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 36 4 370 269 26 0 705
Illumina Laboratory Services, Illumina 0 0 161 13 27 0 201
Counsyl 7 58 44 6 0 0 115
Fulgent Genetics, Fulgent Genetics 28 46 22 3 0 0 99
Myriad Genetics, Inc. 4 78 0 0 0 0 82
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 18 0 0 0 0 38
Claritas Genomics 17 5 0 0 0 0 22
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 13 0 0 0 17
OMIM 12 0 1 0 0 0 13
3billion 3 6 2 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 3 0 0 0 10
Genome-Nilou Lab 0 0 0 0 8 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 0 3 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 5 1 1 0 0 0 7
Genetic Services Laboratory, University of Chicago 6 0 0 0 0 0 6
Baylor Genetics 3 1 0 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Medical Molecular Genetics Department, National Research Center 3 1 0 0 0 0 4
Breda Genetics srl, 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 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
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
DECIPHERD-UDD, Universidad del Desarrollo 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
Department of Molecular Genetics, Istishari Arab Hospital 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Animal Biology, Molecular and Human Genetics Lab, University of Tabriz 1 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou 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
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 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
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 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
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1

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