ClinVar Miner

Variants studied for Cockayne syndrome

Included ClinVar conditions (7):
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
64 104 336 72 64 617

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ERCC6 27 56 125 22 25 240
ERCC4 7 4 121 38 16 186
ERCC8 18 26 49 4 13 104
ERCC6, ERCC6-PGBD3 6 17 24 5 6 56
ERCC6, ERCC6-PGBD3, PGBD3 2 1 13 3 1 20
ERCC8, NDUFAF2 2 0 4 0 3 9
ERCC1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 169 28 47 243
Invitae 7 4 121 38 16 186
Counsyl 8 59 44 6 0 117
Myriad Women's Health, Inc. 1 30 0 0 0 31
Claritas Genomics 17 5 0 0 0 22
OMIM 12 0 1 0 0 13
Fulgent Genetics,Fulgent Genetics 5 0 6 0 0 11
Genetic Services Laboratory, University of Chicago 6 0 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 2
GeneReviews 2 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 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
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 2 0 0 2
Breda Genetics srl 2 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Department of Medical Genetics,College of Basic Medicine, Army Medical University 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 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 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 1

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