ClinVar Miner

Variants studied for Cockayne syndrome

Included ClinVar conditions (17):
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
86 70 164 84 42 1 422

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC6 30 30 59 50 14 0 170
ERCC8 18 18 31 6 4 0 72
ERCC4 3 1 39 5 4 0 52
ERCC6, ERCC6-PGBD3 6 15 14 9 5 0 48
BIVM-ERCC5, ERCC5 16 3 6 9 10 0 39
ERCC6, ERCC6-PGBD3, PGBD3 2 1 8 5 1 0 17
ERCC8, NDUFAF2 1 0 4 0 3 0 8
ERCC2 5 1 1 0 0 1 7
ERCC1 3 1 2 0 0 0 6
ERCC5 2 0 0 0 0 0 2
CD3EAP, ERCC1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 74 64 26 0 164
Counsyl 9 59 44 6 0 0 118
Invitae 3 1 39 5 4 0 52
OMIM 37 0 1 0 0 0 38
Claritas Genomics 17 5 0 0 0 0 22
Fulgent Genetics,Fulgent Genetics 8 0 9 0 0 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 2 7 7 0 17
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 5 6 0 13
Genetic Services Laboratory, University of Chicago 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 3 0 0 0 6
Mendelics 1 0 1 2 1 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 3 0 4
Baylor Genetics 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 0 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Medical Genetics,College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 1 0 0 0 0 0 1

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