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
81 71 150 95 49 1 421

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC6 31 33 59 50 14 0 172
ERCC8 15 17 31 6 4 0 69
ERCC4 2 1 27 18 13 0 61
ERCC6, ERCC6-PGBD3 5 14 14 9 5 0 46
BIVM-ERCC5, ERCC5 15 3 5 7 9 0 34
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 1 0 0 0 5
ERCC5 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 26
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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 12 62 44 6 0 0 124
Invitae 2 1 27 18 13 0 61
OMIM 37 0 1 0 0 0 38
Claritas Genomics 17 5 0 0 0 0 22
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 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 3 0 4
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
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
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Department of Medical Genetics,College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1

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