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
61 71 298 58 62 530

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 32 123 22 25 216
ERCC4 6 3 85 24 14 132
ERCC8 17 19 49 4 13 96
ERCC6, ERCC6-PGBD3 5 16 24 5 6 55
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: 32
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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 6 3 85 24 14 132
Counsyl 8 59 44 6 0 117
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
GeneReviews 2 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 2 0 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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
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
Myriad Women's Health, Inc. 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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